Materiały źródłowe

• #1 MCAD deficiency – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/mcad-deficiency/diagnosis-treatment/drc-20353747

  MCAD deficiency is diagnosed through newborn screening followed by genetic testing. […] A metabolic specialist, and often a registered dietitian, are usually included in your diagnosis and treatment. Lab tests can be done to help identify problems with your metabolism the processes your body uses to produce energy. Results can help treat or prevent complications. […] Newborn screening at birth allows MCAD deficiency to be diagnosed and treated early, before symptoms occur, preventing complications. Once identified, the disorder can be managed through diet and lifestyle. […] The main goal of treatment for MCAD deficiency is to prevent problems caused by your metabolism that can lead to low blood sugar. […] Your health care team may recommend additional treatment options. […] Work with your health care team, including a registered dietitian, to develop a treatment plan tailored to your energy needs.

• #1 Medium-chain acyl-CoA dehydrogenase deficiency – Genomics Education Programme

  http://www.genomicseducation.hee.nhs.uk/documents/medium-chain-acyl-coa-dehydrogenase-deficiency/

  Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid oxidation that prevents the conversion of fats to energy via hepatic ketogenesis. This impairs the supply of energy to peripheral tissues, causing a continual reliance on glucose to provide energy. […] The most important preventative management is the avoidance of fasting. This is achieved by regular feeding in infancy, and providing older patients with complex carbohydrate before sleeping to ensure a sufficient supply of glucose overnight. […] For symptomatic patients, simple carbohydrates by mouth are the first line treatment (for example, glucose sweets). […] If patients are unable to meet their anabolic requirements orally, then IV dextrose replacement can be given. The aim of this is to maintain blood glucose levels (5mmol/L). […] Patients have an excellent prognosis if they avoid fasting, and are managed appropriately during a crisis. […] Patients with MCADD are prone to excessive weight gain, and so should receive specialist education regarding proper nutrition and safe physical exercise.

• #1 Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency | New York State Department of Health, Wadsworth Center

  https://www.wadsworth.org/public-health-programs/newborn-screening/newborn-screening-program/medium-chain-acyl-coa-dehydrogenase-mcad-deficiency

  MCAD deficiency is inherited in an autosomal recessive pattern. […] Newborns may not show any symptoms, but left untreated, the disorder can cause hypoglycemia, lethargy, liver disease, vomiting, seizures, coma and sudden death. […] Patients with an abnormal newborn screen for MCAD deficiency are referred to an Inherited Metabolic Disorder Specialty Care Center for evaluation by a biochemical geneticist trained in the diagnosis and treatment of MCAD deficiency. […] There is no cure for the disorder. In infancy, treatment includes frequent feeding. Treatment includes lifelong avoidance of fasting. Some physicians may recommend consuming uncooked cornstarch before bedtime. Additional medical care, including intravenous feedings, may be required during times of illness. […] The best results occur in those individuals identified by newborn screening and treated shortly after birth. The prognosis is excellent in patients who avoid fasting and seek additional treatment during times of illness.

• #1

  https://www.gov.uk/government/publications/family-history-of-mcadd-information-sheet/mcadd-the-importance-of-taking-a-family-history

  Babies with a family history of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) may require additional care. This may include an early newborn blood spot screening test. […] It is always important to establish whether there is a family history of MCADD so that timely action can be taken. If a family history of MCADD is reported, the healthcare professional should: […] If a mother or her partner has a family history of MCADD you should make a referral to a paediatrician or genetic counsellor for advice. This advice should form the basis of a birth plan (making sure the birth plan is written in the mothers notes). […] Depending on the risk of the baby having MCADD, the parents may be advised that their baby needs early screening for MCADD. A sample of blood should be collected 24 to 48 hours after birth on a blood spot card marked Family history of MCADD. The parents will also be given information about any special treatment required after the birth of their baby. […] If MCADD is confirmed, follow the standard MCADD clinical and dietary management guidelines.

• #1 Orphanet: Medium chain acyl-CoA dehydrogenase deficiency

  https://www.orpha.net/en/disease/detail/42

  Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. […] MCADD usually presents 3 to 24 months after birth in previously healthy infants. However, neonatal presentations are well described as are those in adults, given sufficient metabolic stress (such as significant alcohol ingestion). Nevertheless, many affected individuals remain asymptomatic throughout life. Typically hypoketotic hypoglycemia, lethargy and vomiting are triggered by an infection, fasting or surgery. Some patients, however, can present with a progressive metabolic crisis despite ketosis and normal blood glucose. Rarely patients may present in crisis with ”paradoxically” gross ketosis. During a crisis, a patient may manifest with lethargy, emesis, respiratory arrest, seizures, hepatomegaly and rapid progression to cardiac arrest unless emergency treatment is implemented. Potential brain injury occurring during these episodes can lead to an increased risk of long term neurological damage. Sudden unexplained death can sometimes be the first manifestation of this disease. Historically, about 25% of undiagnosed patients die during their first presentation of a crisis.

• #1 Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/medium-chain-acyl-coa-dehydrogenase-mcad-deficiency

  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a rare metabolism disorder that prevents the body from breaking down certain fatty acids and converting them into energy. […] Without treatment, children born with MCAD deficiency can face sudden death in infancy and serious disabilities throughout life. […] MCAD deficiency is inherited autosomal recessively. That means your child would have to inherit a defective gene from both parents to have this condition. […] For children with MCAD deficiency, neither copy of the ACADM gene can provide the proper instructions to produce the enzyme. […] Symptoms of MCAD deficiency can range from mild to severe. On the mild end, some individuals with MCAD deficiency may only have slight exercise intolerance. […] Severe MCAD deficiency usually appears in infancy.

• #1 An Educator’s Guide to MCADD — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/an-educators-guide-to-mcadd

  If children with MCADD go too long without food, low blood sugar (hypoglycemia) can occur, with or without other symptoms of a metabolic crisis. Low blood sugar can cause weakness, shakiness, dizziness, or cold, clammy skin. […] To prevent symptoms from occurring, children with MCADD may need to eat or drink more often than their classmates. […] Treatments can include: Avoidance of going a long period of time without food. A low fat, high carbohydrate diet (some parents try to keep the child’s fat intake to 25-30%). Prescription L-carnitine supplements that help the body make energy and break down fat. […] Results from this study indicated that children with MCADD need a little extra encouragement to join activities, speak up in class, or tell the teacher if they have a problem. […] The child should see a nurse if he or she is experiencing extreme fatigue or other symptoms of illness. The child may look and feel fine one minute and then have a severe problem the next.

• #1 Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/medium-chain-acyl-coa-dehydrogenase-mcad-deficiency

  Treatment focuses on helping your child maintain normal blood sugar levels by eating regular healthy meals. […] If your child experiences severely low blood sugar (also called hypoglycemia), they may need to go to the Emergency Department to receive high-dextrose (sugar) fluids intravenously. […] If left untreated or not treated promptly and properly, MCAD deficiency can lead to brain injury, developmental delays, attention-deficit disorder, muscle weakness, reduced exercise tolerance, irregular heartbeats (cardiac arrhythmia), low blood sugar (hypoglycemia), liver disease, kidney disease and, in rare cases, sudden and unexpected death. […] Patients treated for MCAD deficiency at Childrens Hospital of Philadelphia (CHOP) are followed regularly by the Metabolic Disease Program and followed by subspecialists based on their clinical history. […] Your child’s team includes board-certified physicians, pediatric nurse practitioners, social workers, genetic counselors and dietitians.

• #1 An Educator’s Guide to MCADD — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/an-educators-guide-to-mcadd

  Children with MCADD may need more nutrients than their peers to maintain their energy levels and function in school. […] Most children with MCADD perform very well in school, but might need encouragement in the classroom and extra nutrients throughout the day. […] Parents want the teacher to treat their child the same as all the other students, but also to realize that MCADD can be very serious. If the teacher has any concerns, these should be communicated with the parent to prevent future problems.

• #1 Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD) Treatment & Management: Medical Care, Consultations, Diet

  https://emedicine.medscape.com/article/946755-treatment

  A major component of the medical treatment of medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency is a diet that permits adequate nutrition and avoids any fasting period longer than 4-5 hours. […] Diet should be adjusted to supply requisite nutrition for normal growth and avoid fasting periods of more than 4-5 hours in infants younger than 6 months. Thereafter, fasting of more than 8 hours should be avoided in infants aged 6-12 months, and fasting of more than 10 hours should be avoided in patients aged 12-24 months. Subsequently, no affected individual should be permitted to fast longer than 12 hours. […] Because the fundamental biochemical defect is in fatty acid oxidation, the composition of the diet should be adjusted to provide greater caloric density in carbohydrates and proteins and minimize lipids.

• #1

  https://europepmc.org/books/n/statpearls/article-24897/?extid=31082016&src=med

  Some patients require bedtime doses of raw cornstarch to ensure slow glucose release overnight. […] Patients should consume meals with a high complex carbohydrate content and follow a low-fat diet. […] L-carnitine supplementation of 50 to 100 mg/kg/day has historically been prescribed to patients with MCADD. […] The Genetic Metabolic Dietitians International guideline for chronic management of patients with MCADD recommends the following interventions: A concentrated glucose source for emergency use should be available at all times. […] All patients with MCADD should receive an emergency protocol letter from their metabolic specialist. […] In the absence of definitive enzyme replacement or gene therapy, the management of this disease revolves around dietary changes and emergency response protocols during an acute illness.

• #1

  https://gmdi.org/Resources/Nutrition-Guidelines/MCAD

  Regular infant formula or breast milk can be continued in MCADD infants. […] The dietary recommendations for MCADD do not include restriction of any food group or single nutrient, so there is no a priori need for nutrient supplementation. […] For the individual with MCADD, intervention during illness is crucial. Illness increases caloric demands, while at the same time poor appetite and/or vomiting and diarrhea may limit intake. […] It is imperative that caregivers understand the importance of immediate and decisive action when the MCADD individual is ill and not capable of sufficient oral intake, and/or shows signs of lethargy, hypotonia, decline in mental status, and/or has blood glucose levels 60mg/dl, which cannot be improved with oral feeding. […] Discharge from the medical facility should not occur until the MCADD individual is able to consume sufficient oral intake to maintain normaglycemia.

• #1 Going to the Emergency Room with MCADD

  https://www.massgeneral.org/children/mcadd

  When children with MCADD are sick, the illness can cause an acute crisis in which they need to visit the emergency room. They also need the appropriate care from doctors who understand how illness affects MCADD. […] If your child is sick and eating or drinking less than usual, it can cause an acute crisis (a serious illness that needs emergency care). Without the appropriate emergency care, your child can get sicker. The acute crisis can also be life-threatening. […] Tell the ED doctor that your child has MCADD. […] Follow the full Acute Illness Protocol (PDF) from the New England Consortium. […] Go to the ED at Mass General for Children (MGfC). Before arriving at the emergency room, call MGfC at 617-726-2000 and ask the operator to page the genetics metabolism doctor on call. This will help the operator alert the doctors about your child’s condition.

• #1 MCADD (medium chain acyl-CoA dehydrogenase deficiency) – newbornscreening.info

  https://www.newbornscreening.info/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency/

  Children with MCADD need to eat extra starchy food and drink more fluids during any illness even if they may not feel hungry or they could develop hypoglycemia or a metabolic crisis. […] If both gene changes have been found in your child with MCADD, DNA testing can be done during future pregnancies. […] The brothers and sisters of a baby with MCADD have a chance of being affected, even if they have had no symptoms. Finding out whether other children in the family have MCADD is important because early treatment may prevent serious health problems.

• #1

  https://gmdi.org/Resources/Nutrition-Guidelines/MCAD

  Fasting before surgical procedures and during recovery puts an MCADD individual at risk. Most agree that clear liquids can be given up to 4 hours before surgery, but IV glucose should be started before the procedure and continued until the patient can consume adequate oral intake and can maintain normoglycemia. […] The individual with MCADD and/or the caregiver will understand the importance of avoiding fasting and eating meals on a regular schedule.

• #1 MCAD deficiency – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/mcad-deficiency/diagnosis-treatment/drc-20353747

  Parent and family understanding of the condition is critical to ongoing care and prevention of low blood sugar episodes and other complications. […] If you or your child have MCAD deficiency, wear a medical alert bracelet or necklace and carry a medical card. This lets health care providers know of your condition, even in an emergency. […] Caring for a child or family member with a lifelong disorder such as MCAD deficiency can be challenging. Consider these strategies: Learn as much as you can about MCAD deficiency. Then you can make the best choices and be an advocate for yourself or your child. Help your child, family members, caregivers, teachers and friends understand the condition, the care needed and the consequences of not following dietary instructions.

• #1 MCADD

  https://www.nhs.uk/conditions/mcadd/

  MCADD is a lifelong condition that’s present from birth. […] MCADD is a potentially serious condition that can be life-threatening if not recognised quickly and treated appropriately. […] With proper care, there’s no reason why someone with MCADD cannot live a normal, healthy and active life. […] Families with a child with MCADD are taught how to prepare and give the emergency regimen. […] A specialist care team will give you advice about how to look after your child and support them as they get older. […] Children and adults with MCADD can eat a normal diet, as long as they frequently take special high-sugar drinks when they’re ill. […] The high-sugar drinks used for treating MCADD are available on prescription from a GP.

• #1

  http://www.idph.state.il.us/healthwellness/fs/mcad.htm

  Affected infants can be diagnosed in the neonatal period. […] Children with MCAD have a significant risk of death during the first, or subsequent clinical episode of hypoglycemia. […] Early diagnosis and treatment is essential for an improved prognosis. […] For most fatty acid oxidation disorders, including MCAD, management involves avoidance of fasting and aggressive medical management during illness, especially if the child is vomiting or is not receiving adequate nutritional intake. […] MCAD is the most common of the fatty acid oxidation disorders with an incidence of approximately one in 10,000 to 20,000 births. […] Parents should understand that treatment is lifelong and that compliance with dietary management and awareness of and prompt attention to episode triggers, including illness and fasting, are imperative to the child’s health, growth and development.

• #1

  https://europepmc.org/books/n/statpearls/article-24897/?extid=31082016&src=med

  Caregiver support and education are an essential part of MCADD treatment. […] Metabolic dieticians are an integral part of the interprofessional team managing these patients. […] A collaborative approach to managing this disease utilizing an interprofessional team can improve clinical outcomes for MCADD and minimize its impact on their lives.

• #1 Medium-Chain Acyl-CoA Dehydrogenase Deficiency – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/medium-chain-acyl-coa-dehydrogenase-deficiency/

  Providing caregivers with support and education is a vital part of treating MCADD. […] This support is particularly important in the first year of life, a time when parents often feel physically and mentally overwhelmed. […] The good news is that with early diagnosis and proper treatment, the chances of brain function problems are greatly reduced.

• #1 Medium-Chain Acyl-CoA Dehydrogenase Deficiency – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK560837/

  Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare autosomal recessive disorder characterized by mitochondrial fatty acid -oxidation impairment, leading to severe metabolic consequences. […] Management primarily involves dietary adjustments and emergency protocols during acute illness or stress. […] Clinicians must be proficient in identifying and managing MCADD to improve patient outcomes. Early diagnosis is critical, as it can dramatically improve prognosis and reduce medical care costs. […] Clinical management requires dietary adjustments and emergency response protocols during acute illness or stress. […] The main goal of long-term management is to prevent prolonged fasting. […] Dietary restrictions include avoidance of foods and infant formulas that contain medium-chain fatty acids.

• #1 Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD) | Newborn Screening Ontario

  https://www.newbornscreening.on.ca/en/results/screen-positive-results/disease-information/medium-chain-acyl-coa-dehydrogenase-deficiency-mcadd/

  Babies with MCADD have cannot make certain fats into energy, especially during long periods without food (fasting). […] Treatment is started as early as possible and is usually life long. […] Treatment involves: Frequent feeding, especially when ill. […] To prevent a metabolic crisis, babies with MCADD must not go a long time without eating. […] Treatment is very effective at preventing metabolic crises. […] With early treatment and careful monitoring most babies with MCADD will lead healthy lives with normal growth and intelligence.

• #1

  http://www.idph.state.il.us/healthwellness/fs/mcad.htm

  Infants and children with a fatty acid oxidation defect should have regular follow-up appointments with a metabolic disease specialist. […] Parents should be warned that if an infant shows warning signs of the disorder, such as lethargy or vomiting, they should immediately seek medical attention. […] Long-term management and treatment compliance are essential to the child’s well-being.

• #1

  https://www.gov.uk/government/publications/mcadd-suspected-description-in-brief/mcadd-detailed-information

  This information is for parents if their baby is suspected of having MCADD or has been diagnosed with MCADD following their newborn blood spot screening test (heel prick test). It will help you and your healthcare professionals to talk through the next stages of your babys care. […] If your baby does have MCADD, the metabolic team will: explain the condition in detail and answer any questions you might have, arrange regular follow-up appointments, provide you with contact details for the metabolic team and written information. […] The metabolic team will see you regularly throughout your childs life and your child will remain under their care. […] Babies with MCADD should feed regularly (every 3 to 4 hours day and night) and should not fast for more than 6 hours. […] If your baby becomes ill, they might have an episode known as a metabolic crisis (also known as metabolic decompensation).

• #1

  https://www.singhealth.com.sg/patient-care/conditions-treatments/medium-chain-acyl-coa-dehydrogenase-deficiency

  Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an inherited metabolic disorder in which the body is unable to break down certain forms of fat to produce energy. […] In individuals with MCADD, this enzyme is either missing or not working properly. Hence, they are unable to turn medium-length fatty acids into energy. […] The health outcome for most individuals with MCADD is excellent. Growth, development and general health are expected to be normal if the diagnosis is made early and emergency treatment is given during periods of illness or poor feeding. […] The management of MCADD includes: Avoidance of fasting, Use of emergency treatment protocol, Use of emergency regimen (provided by dietitian), Carnitine supplementation in some cases (if carnitine level is low), Intravenous glucose drip in the hospital if the child vomits or refuses to eat, Avoidance of concentrated sources of medium-chain triglycerides (MCT), like MCT oil and specialised products with high MCT oil content. […] As MCADD is a lifelong condition, there will be regular monitoring of growth and development, and assessment of diet and nutrition. […] Most people with MCADD, with appropriate care and management, go on to live long, healthy lives.

• #1 Identifying MCADD risk in the antenatal period: tips for healthcare professionals | Nursing Times

  https://www.nursingtimes.net/midwifery-and-neonatal/identifying-mcadd-risk-in-the-antenatal-period-tips-for-healthcare-professionals-03-12-2011/

  The National Genetics Education and Development Centre discuss MCADD, the risk it presents for newborns and recommended treatment guidelines for nurses. […] Babies who have been identified as being at risk for MCADD in the antenatal period should have a pathway of care implemented and documented in the mothers notes as recommended by the UK Newborn Screening Programme Centre. The British Inherited Metabolic Diseases Group (BIMDG) has guidance of the management of newborn babies with a family history of MCADD. They specify the importance of ensuring that the baby has a good milk intake. A term baby, at risk from MCADD, should be fed every four hours from birth and a preterm baby every three hours. BIMDG also recommend that breast-fed babies are given routine top-ups of formula milk as it is difficult to know how much breast milk is being taken.

• #1 NPSA issues MCADD guidance | Nursing Times

  https://www.nursingtimes.net/midwifery-and-neonatal/npsa-issues-mcadd-guidance-08-11-2011/

  Deaths caused by medium chain acyl-CoA dehydrogenase deficiency (MCADD) could be reduced after guidance was issued to ensure nurses and other medical staff working with pregnant women take action on any mention of a family history of the condition. […] It is thought that healthcare staff were not educated on the significance of MCADD and did not refer these patients to specialists or take any other precautions, despite the family history being mentioned during pregnancy.

• #1 Newborn screening information for medium-chain acyl-CoA dehydrogenase deficiency | Baby’s First Test | Newborn Screening | Baby Health

  https://www.babysfirsttest.org/newborn-screening/conditions/medium-chain-acyl-coa-dehydrogenase-deficiency

  Support groups can help connect people who have a child or other family member affected with medium-chain acyl-CoA dehydrogenase deficiency (MCAD) with a supportive community of people who have experience and expertise in living with the condition. […] Work with your baby’s doctor to determine the next steps for your baby’s care. Your baby’s doctor may help you coordinate care with a physician who specializes in metabolism, a dietician who can help plan your child’s specialized diet, and other medical resources in your community.

• #1 The Loss Of Our Son Has Devastated Our Family – This Time I Will Be Supplementing With Formula After Every Nursing session – Fed Is Best Foundation

  https://fedisbest.org/2020/07/the-loss-of-our-son-has-devastated-our-family-this-time-i-will-be-supplementing-with-formula-after-every-nursing-session/

  The loss of our son has devastated our family. It was so unexpected and MCADD was something we’d never heard of. I wish we were more educated on how to supplement a baby who is not nursing as instructed. I just wish I would have gotten formula for home, but I just didn’t know. You’re always taught breast is best. […] I am pregnant again and this time I will be supplementing with formula after every nursing session. We will be staying in the hospital, under the care of our genetic team while waiting for the newborn screening result, for the best possible outcome. […] Exclusive breastfeeding has been proposed as a risk factor for early decompensation. Low milk production or difficulties with milk transfer can cause a neonate to have a prolonged period of fasting. […] This study explains why exclusively breastfed neonates with MCADD are at increased risk for morbidity and mortality in the neonatal period as compared with infants not exclusively breastfed. As exclusive breastfeeding rates increase, careful observation of breastfed neonates and universal education on the signs of poor feeding and hypoglycemia are essential to protect neonates before their newborn screening results are available.

• #1 SciELO Brazil – Medium Chain Acyl CoA Dehydrogenase Deficiency and Eating Disorders: An Underreported Coincidence Medium Chain Acyl CoA Dehydrogenase Deficiency and Eating Disorders: An Underreported Coincidence

  https://www.scielo.br/j/jiems/a/5CCSBv6vW4LtKwSWCS35sRv/

  Medium chain acyl-coA dehydrogenase deficiency (MCADD), the most common fatty acid oxidation disorder, has been regarded as a relatively benign condition with low risk of mortality in patients with a known diagnosis, if adequate caloric intake is met. […] However, inadequate energy provision, as occurs in eating disorders, significantly amplifies the risk of metabolic decompensation. […] The coexistence of MCADD and eating disorders is of significant concern, placing the patient at substantial risk of decompensation in an otherwise relatively stable metabolic condition. […] Awareness of disordered eating in this population is paramount, as early recognition of signs and symptoms of eating disorders in the MCADD population may facilitate prompt intervention and avoidance of morbidity and potential mortality.

• #1 SciELO Brazil – Medium Chain Acyl CoA Dehydrogenase Deficiency and Eating Disorders: An Underreported Coincidence Medium Chain Acyl CoA Dehydrogenase Deficiency and Eating Disorders: An Underreported Coincidence

  https://www.scielo.br/j/jiems/a/5CCSBv6vW4LtKwSWCS35sRv/

  The management of MCADD focuses primarily on preventative measures with avoidance of fasting to prevent catabolism and hypoglycaemia. […] Eating disorders are common in the general population, particularly in women, with a lifetime prevalence of 8.4% (3.3-18.6) and 2.2% (0.8-6.5%) in women and men respectively, according to a recent global report. […] Higher rates of disordered eating are known to occur in chronic health conditions involving attention to diet, such as inflammatory bowel disease and diabetes. […] Within the milieu of inborn errors of metabolism (IEM), where optimum management demands strict attention to diet and relevant modifications to avoid decompensation, it is perhaps unsurprising that disordered eating may arise. […] This approach, however, needs to be undertaken without judgement to ensure patient rapport is maintained.

• #1 SciELO Brazil – Medium Chain Acyl CoA Dehydrogenase Deficiency and Eating Disorders: An Underreported Coincidence Medium Chain Acyl CoA Dehydrogenase Deficiency and Eating Disorders: An Underreported Coincidence

  https://www.scielo.br/j/jiems/a/5CCSBv6vW4LtKwSWCS35sRv/

  The management of eating disorders is intensive, often necessitating a multidisciplinary approach with regular and graded review. […] Various models of care exist for management of MCADD in adults. […] These cases suggest that eating disorders should be considered in the routine assessment of MCADD patients especially during adolescence and young adulthood. […] Disordered eating is likely more common than currently recognised in patients with metabolic disorders such as MCADD, which predisposes these patients to metabolic decompensation.

• #1 Coexistence of Medium chain acyl-CoA dehydrogenase deficiency (MCADD) and Type 1 diabetes (T1D): A management challenge | ESPE2019 | 58th Annual ESPE (ESPE 2019) | ESPE Abstracts

  https://abstracts.eurospe.org/hrp/0092/hrp0092p2-76

  Coexistence of Medium chain acyl-CoA dehydrogenase deficiency (MCADD) and Type 1 diabetes (T1D): A management challenge […] Management includes avoiding prolonged periods of starvation, consuming high carbohydrate drinks during periods of illness and in symptomatic patients, reversal of catabolism and sustained anabolism by provision of simple carbohydrates by mouth or intravenously. […] A key goal of management in T1D is achievement of good glycaemic control to reduce risk of long-term complications. This can in some cases increase the risk of hypoglycaemia which can be catastrophic in the presence of MCADD. […] Our case describes practical aspects of balancing the concurrent risk of hypoglycaemia whilst trying to achieve good glycaemic control, when T1D and MCADD coexist. Shared care between the specialist teams is vital to keeping the patients safe.

• #1 Study of Triheptanoin for the Prevention of Hypoglycemia in Patients with Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) | Clinical Research Trial Listing

  https://www.centerwatch.com/clinical-trials/listings/NCT06067802/study-of-triheptanoin-for-the-prevention-of-hypoglycemia-in-patients-with-medium-chain-acyl-coa-dehydrogenase-deficiency-mcadd

  This is a medical research study to test a medication in adult patients with a disease called medium-chain acyl-CoA dehydrogenase deficiency (MCADD). […] This study will investigate the safety and efficacy (how well it works) of triheptanoin in patients with MCADD. […] Dosing for this study will begin at 0.2 gm/kg/day up to a dose of 1.0 gm/kg/day. […] After the Week 9 admission they will no longer take the triheptanoin.

• #1 MCAD Deficiency Diagnosis and Treatment

  https://informnetwork.org/mcad-deficiency/

  Currently, there are no active programs to develop additional specific treatments or management for MCAD, but new approaches may appear as products that are effective in treatment of the entire class of fatty oxidation disorders are developed. […] As the founder of INFORM Network, Jerry Vockley has worked to provide families of those affected by fatty acid oxidation disorders with information on the disorder, as well as create a FAOD support group and community.

• #1 MCADD (medium chain acyl-CoA dehydrogenase deficiency) – newbornscreening.info

  https://www.newbornscreening.info/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency/

  MCADD (medium chain acyl-CoA dehydrogenase deficiency) is a fatty acid oxidation disorder. Children with MCADD should be followed by a metabolic doctor in addition to their primary doctor. […] MCADD occurs when an enzyme called medium chain acyl-CoA dehydrogenase (MCAD) is either missing or not working properly. This enzyme’s job is to break down certain fats in the food we eat into energy. […] If MCADD is not treated, it can cause bouts of illness called metabolic crises. Children with MCADD often show effects for the first time between three months and three years of age. […] Your baby’s primary doctor will work with a metabolic doctor to care for your child. Certain treatments may be advised for some children but not others. […] With prompt and careful treatment, children with MCADD usually live healthy lives with typical growth and development. The goal of treatment is to prevent long-term problems. […]

• #2 MCAD deficiency | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/mcad-deficiency?content_id=CON-20193216

  MCAD deficiency is an inherited disorder that prevents your body from breaking down certain fats and turning them into energy. […] If left untreated, MCAD deficiency may lead to severe lack of energy and tiredness, liver disease, coma, and other serious health problems. […] MCAD deficiency is present from birth and is a lifelong condition. […] If MCAD deficiency is diagnosed and treated early, the disorder can be well managed through diet and lifestyle. […] The main goal of treatment for MCAD deficiency is to prevent problems caused by your metabolism that can lead to low blood sugar. […] Your health care team may recommend additional treatment options. […] Work with your health care team, including a registered dietitian, to develop a treatment plan tailored to your energy needs.

• #2 Medium-chain acyl-CoA dehydrogenase deficiency – Genomics Education Programme

  https://www.genomicseducation.hee.nhs.uk/documents/medium-chain-acyl-coa-dehydrogenase-deficiency/

  MCADD is an autosomal recessive disorder of fatty acid oxidation that prevents the conversion of fats to energy via hepatic ketogenesis. This impairs the supply of energy to peripheral tissues, causing a continual reliance on glucose to provide energy. […] The most important preventative management is the avoidance of fasting. This is achieved by regular feeding in infancy, and providing older patients with complex carbohydrate before sleeping to ensure a sufficient supply of glucose overnight. […] For symptomatic patients, simple carbohydrates by mouth are the first line treatment (for example, glucose sweets). […] If patients are unable to meet their anabolic requirements orally, then IV dextrose replacement can be given. The aim of this is to maintain blood glucose levels (5mmol/L). […] Patients have an excellent prognosis if they avoid fasting, and are managed appropriately during a crisis. […] Patients with MCADD are prone to excessive weight gain, and so should receive specialist education regarding proper nutrition and safe physical exercise.

• #2 Medium-Chain Acyl-CoA Dehydrogenase Deficiency – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/medium-chain-acyl-coa-dehydrogenase-deficiency/

  Providing caregivers with support and education is a vital part of treating MCADD. […] This support is particularly important in the first year of life, a time when parents often feel physically and mentally overwhelmed. […] The good news is that with early diagnosis and proper treatment, the chances of brain function problems are greatly reduced.

• #2

  https://gmdi.org/Resources/Nutrition-Guidelines/MCAD

  Regular infant formula or breast milk can be continued in MCADD infants. […] The dietary recommendations for MCADD do not include restriction of any food group or single nutrient, so there is no a priori need for nutrient supplementation. […] For the individual with MCADD, intervention during illness is crucial. Illness increases caloric demands, while at the same time poor appetite and/or vomiting and diarrhea may limit intake. […] It is imperative that caregivers understand the importance of immediate and decisive action when the MCADD individual is ill and not capable of sufficient oral intake, and/or shows signs of lethargy, hypotonia, decline in mental status, and/or has blood glucose levels 60mg/dl, which cannot be improved with oral feeding. […] Discharge from the medical facility should not occur until the MCADD individual is able to consume sufficient oral intake to maintain normaglycemia.

• #2 An Educator’s Guide to MCADD — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/an-educators-guide-to-mcadd

  Children with MCADD may need more nutrients than their peers to maintain their energy levels and function in school. […] Most children with MCADD perform very well in school, but might need encouragement in the classroom and extra nutrients throughout the day. […] Parents want the teacher to treat their child the same as all the other students, but also to realize that MCADD can be very serious. If the teacher has any concerns, these should be communicated with the parent to prevent future problems.

• #2 Identifying MCADD risk in the antenatal period: tips for healthcare professionals | Nursing Times

  https://www.nursingtimes.net/midwifery-and-neonatal/identifying-mcadd-risk-in-the-antenatal-period-tips-for-healthcare-professionals-03-12-2011/

  The National Genetics Education and Development Centre discuss MCADD, the risk it presents for newborns and recommended treatment guidelines for nurses. […] Babies who have been identified as being at risk for MCADD in the antenatal period should have a pathway of care implemented and documented in the mothers notes as recommended by the UK Newborn Screening Programme Centre. The British Inherited Metabolic Diseases Group (BIMDG) has guidance of the management of newborn babies with a family history of MCADD. They specify the importance of ensuring that the baby has a good milk intake. A term baby, at risk from MCADD, should be fed every four hours from birth and a preterm baby every three hours. BIMDG also recommend that breast-fed babies are given routine top-ups of formula milk as it is difficult to know how much breast milk is being taken.

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