Materiały źródłowe

• #1 MCADD

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

  MCADD is a rare genetic condition where a person has problems breaking down fat to use as an energy source. […] MCADD is a lifelong condition that’s present from birth. It is usually picked up using the newborn blood spot test. […] MCADD is caused by a fault in the gene that provides the instructions to make an enzyme called medium-chain acyl-CoA dehydrogenase (MCAD). […] A newborn blood spot test is now offered to all babies in England to earlier help detect problems including MCADD. […] If you’ve previously had a child with MCADD, the newborn blood spot test should be carried out within 24 to 48 hours of birth. […] There’s no specific treatment for MCADD. 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 this includes common illnesses such as a high temperature, diarrhoea, or vomiting. […] The high-sugar drinks used for treating MCADD are available on prescription from a GP. You’ll be advised by a specialist dietitian about when to use them and how much to use.

• #1 Medium-chain acyl-coenzyme A dehydrogenase deficiency – Wikipedia

  https://en.wikipedia.org/wiki/Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency

  MCADD is most prevalent in individuals of Northern European Caucasian descent, with an incidence of 1:4000 to 1:17,000 depending on the population. Treatment of MCADD is mainly preventive, by avoiding fasting and other situations where the body relies on fatty acid oxidation to supply energy. […] Individuals with MCADD need to avoid fasting for prolonged periods of time. During illnesses, they require careful management to stave off metabolic decompensation, which can result in death. Supplementation of simple carbohydrates or glucose during illness is key to prevent catabolism. […] Individuals with MCADD should have an „emergency letter” that allows medical staff who are unfamiliar with the patient and the condition to administer correct treatment properly in the event of acute decompensation. This letter should outline the steps needed to intervene in a crisis and have contact information for specialists familiar with the individual’s care.

• #1 Exploring therapeutic approaches for treatment of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency – D-Scholarship@Pitt

  http://d-scholarship.pitt.edu/21078/

  Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a common biochemical genetic disorder in the US. […] A clinical trial testing the efficacy of phenylbutyrate in MCAD patients is underway. […] Even though newborn screening has reduced the mortality of the MCADD, patients still require frequent hospital visits during metabolic decompensation. New treatments for MCADD will significantly reduce the burden of disease on these patients.

• #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. […] 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. […] Recommendations to prevent low blood sugar called hypoglycemia generally include: Avoid fasting longer than recommended by your health care team. Eat regular meals and snacks with adequate calories from complex carbohydrates, such as brown bread, rice, pasta and cereal, for energy needs. […] Parent and family understanding of the condition is critical to ongoing care and prevention of low blood sugar episodes and other complications. Prevention tips include: Avoid skipping meals. Eat complex carbohydrates before extra activity or exercise. Eat complex carbohydrates before going to bed. Increase calories with extra complex carbohydrates during illness or stress. Always carry complex carbohydrate snacks. Always carry a source of simple carbohydrates to treat low blood sugar. […] 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.

• #1

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

  Before MS/MS newborn screening, nearly all cases of MCADD were diagnosed symptomatically. Intervention and treatment often addressed the serious consequences of metabolic decompensation. As more presymtomatic infants have been identified, treatments have become directed toward prevention of metabolic decompensation. […] The primary intervention goal for MCADD individuals is to avoid situations in which the cells must rely solely on stored fats for energy (i.e., avoid fasting). […] Acute illness is often the cause of metabolic decompensation due to poor intake and increased energy demands. […] At home care for an ill MCADD individual is possible only if fasting can be avoided by providing adequate oral carbohydrate and fluid. […] The intervention strategies for illness should be the most emphasized aspect of counseling for the MCADD individual and his caretakers.

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

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

  All states offer newborn screening for MCADD. However, when both parents are carriers, newborn screening results are not sufficient to rule out MCADD in a newborn baby. In this case, special diagnostic testing should be done in addition to newborn screening. […] All women with a family history of MCADD should share this information with their obstetricians and other health care providers before and during any future pregnancies. Knowing about these risks allows better medical care and early treatment if needed.

• #1 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  Newborn screening for MCADD clearly prevents death and disability in many children with the disorder. We conservatively project that one in six children born with MCADD will die in childhood in the absence of screening. Without early asymptomatic detection, at least half of children with MCADD will experience a metabolic crisis, and up to 1 in 10 survivors will develop a serious developmental disability. Conservatively, between one in five and one in four children with MCADD will experience death or severe disability without newborn screening for the disorder.

• #1 Medium chain acyl-CoA dehydrogenase deficiency (MCADD)

  https://www.medicalnewstoday.com/articles/medium-chain-acyl-coa-dehydrogenase-deficiency

  Previous research suggests a maximum period with no food of no more than 3 hours for babies, 4 hours for toddlers, 5 hours for preschool children, and 6 to 7 hours for older children. […] A healthcare team can create an emergency plan that a person can follow in these situations. They may also recommend a medical alert bracelet, which can be beneficial for the individual and healthcare professionals during an emergency. […] During pregnancy, it is especially important to take steps to help avoid MCADD symptom development, such as maintaining appropriate blood sugar levels. […] If a person develops weakness, vomiting, difficulty breathing, seizures, or loss of consciousness, it is vital that they get emergency medical attention. […] Immediate treatment focuses on raising blood sugar, while long-term management involves avoiding fasting, making dietary or lifestyle changes, and being especially careful during illness or pregnancy.

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

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

  MCADD is now identified through newborn screening which allows for early treatment. […] To prevent symptoms from occurring, children with MCADD may need to eat or drink more often than their classmates. […] 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. […] Cornstarch mixed in liquid can also help to decrease the frequency of morning hypoglycemia. […] IV treatment in the emergency room if the child vomits or refuses to eat. […] To reduce the chance of symptoms, encourage the child to: Stay well hydrated, Always eat during snack time, Tell the teacher if he or she feels ill, Monitor how they feel in hot weather or after physical activity. […] 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.

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

  https://emedicine.medscape.com/%20https://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 nutrition therapy fat disorders.pptx

  https://www.slideshare.net/AbubakkarSiddique46/nutrition-therapy-fat-disorderspptx

  The mainstay of treatment for MCADD is the avoidance of fasting. Infants with MCADD are initially fed every 3 hours. Parents are instructed to wake the infants for the feeding. The parents are also instructed on monitoring blood glucose levels. […] Since fasting leads to the release of free fatty acids, uncooked cornstarch has been suggested as a therapeutic option in many of the disorders of fat metabolism. It provides a steady release of glucose over a long period of time, which is beneficial during extended periods of strenuous activity or before bedtime. The use of continuous enteral feeding is another method of providing a steady source of energy substrate in order to minimize catabolism.

• #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

  Your baby will need to be on a restricted diet to avoid the types of fats your baby’s body cannot break down. A dietician or a nutritionist can help plan a high-carbohydrate, low-fat diet that still gives your baby the nutrients he or she needs for healthy growth. […] Eating often will also help prevent your baby from experiencing many of the signs mentioned in the Early Signs section. […] Your baby’s doctor might prescribe L-carnitine supplements. L-carnitine is a substance that most individuals make naturally, but your baby’s body might not be making enough of it. Prescription L-carnitine helps your baby’s body break down fats and remove harmful substances. […] Children who receive early treatment for medium-chain acyl-CoA dehydrogenase deficiency (MCAD) have healthy growth and development.

• #1 Medium Chain acyl-CoA Dehydrogenase Deficiency – Metabolic Support UKAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://metabolicsupportuk.org/condition/medium-chain-acyl-coa-dehydrogenase-deficiency/

  Follow your emergency regimen – when you receive your diagnosis you will be given an emergency regimen explaining what to do if you or your child becomes ill. This includes getting bugs such as vomiting, diarrhoea and fever. Glucose polymer (energy rich drinks) are given regularly during the illness. […] Once this disorder has been diagnosed and appropriate treatment given the prognosis is extremely good. Children will develop entirely normally and can participate in all the activities appropriate for their age.

• #1

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

  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 MCAD deficiency | Beacon Health System

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

  Recommendations to prevent low blood sugar called hypoglycemia generally include: […] Parent and family understanding of the condition is critical to ongoing care and prevention of low blood sugar episodes and other complications. Prevention tips include: […] 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.

• #1

  https://journals.lww.com/md-journal/fulltext/2022/02180/anesthetic_management_of_patients_with_carnitine.26.aspx

  Carnitine deficiency and defects in the fatty acid -oxidation pathway necessitate hypoglycemia prevention by frequently eating and avoiding fasting. Therefore, glucose (5% and 10%) was pre-operatively used for the prevention of intraoperative hypoglycemia in 22 cases (68.75%; Table 1). […] The pre-anesthetic laboratory examination in patients with carnitine deficiency or defects in the fatty acid -oxidation pathway should include electrocardiogram, echocardiography, blood glucose, carnitine, creatine kinase, and serum transaminase (Table 1). […] Dextrose (5% and 10%) is intravenously administered during the pre-operative period, and glucose should be monitored pre-operatively, intraoperatively, and postoperatively. […] Thus, we surmised that only 6 (18.75%) of the 32 surgeries used propofol as an induction or maintenance agent of general anesthesia (Table 1).

• #1 Dysautonomia International

  https://dysautonomia.trialstoday.org/trial/NCT06069375

  This is a medical research study to test a medication in patients 10 years of age and older with a disease called medium-chain acyl-CoA dehydrogenase deficiency (MCADD) caused by the common ACADM c.985 AG (K304E) mutation. The medication is sodium phenylbutyrate (ACER-001), which is currently FDA approved for the treatment of Urea Cycle Disorders. Previous research suggests that sodium phenylbutyrate may also be effective in the treatment MCADD. This study will investigate the safety and efficacy (how well it works) of sodium phenylbutyrate in patients with MCADD. […] Participation in the study will require two overnight admissions and one outpatient visit at the Clinical and Translational Research Center at the UPMC Children’s Hospital of Pittsburgh (also called the PCTRC). The total length of the study is 7 weeks. Subjects will have blood work and an intravenous access line (IV) placed for several blood draws during the overnight visits. Subjects will begin fasting during the admission, which means they may consume only non-caloric fluids (water, unsweetened black coffee or tea, or sugar-free beverages). Bloodwork will be collected during the fast. Following the completion of the fast, the subject will eat a meal and will receive the study drug, sodium phenylbutyrate. The total time of fasting will be up to 24 hours for patients 16 years of age and older and up to 18 hours for patients 10-15 years of age. Dosing for this study will be assigned to one of three doses: 3.0 g/m2/day in one daily dose, 3.0 g/m2/day divided into two daily doses 12 hours apart, and 4.0 g/m2/day divided into two daily doses 12 hours apart. Subjects will return after 4 weeks to undergo the overnight admission and 18/24-hour fasting procedures outlined above. After the Week 5 admission they will no longer take the sodium phenylbutyrate. Subjects will return after 2 weeks for an outpatient visit to have some additional blood work done and to make sure they are not experiencing any adverse effects. All study procedures will be done at no cost to the subjects.

• #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). […] Previous research suggests that triheptanoin may also be effective in the treatment MCADD. […] Dosing for this study will begin at 0.2 gm/kg/day up to a dose of 1.0 gm/kg/day. The dose will be increased gradually to avoid gastric upset. […] After the Week 9 admission they will no longer take the triheptanoin.

• #1 :: JLA :: Journal of Lipid and Atherosclerosis

  https://e-jla.org/DOIx.php?id=10.12997/jla.2021.10.1.1

  Mitochondrial fatty acid oxidation (mFAO) disorders are treatable and preventable by simple avoidance of fasting or dietary modification in most cases, whereas acute metabolic crashes are often fatal in affected individuals not suspected to have these conditions. […] The management of all mFAODs includes avoidance of fasting, aggressive treatment during illness, and supplementation of carnitine or appropriate nutritional support, if necessary. […] Patients with MCADD detected by NBS are less likely to suffer from severe metabolic decompensations and/or fatal outcomes, with the risk reduced by 74%. […] The 3 mainstays of nutritional management for all mFAODs are avoidance of fasting, aggressive treatment during illness, and supplementation of carnitine if deficient, except in patients with LCFAODs. […] It is important for patients with MCADD to avoid medium-chain triglyceride (MCT) oil. […] Since mFAODs are inherited in an autosomal recessive fashion, prenatal genetic counseling is needed in at-risk families.

• #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

  Early screening and treatment can avoid these effects. […] 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. […] Because MCAD is a genetic condition, you may want to talk with a genetics specialist. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for MCAD, and understand what this diagnosis means for other family members and future pregnancies.

• #1 Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/mcadd

  MCADD Acute Illness Materials PDF These acute illness materials are a guideline for healthcare professionals treating the sick infant/child who has previously been diagnosed with medium chain acyl-CoA dehydrogenase deficiency (MCADD), a fatty acid oxidation disorder (FAOD). Metabolic crises in infants/children with FAOD are medical emergencies and must be treated as such to avoid death or serious brain injury. These materials are only a guideline and should not be used for definitive treatment without metabolic consultation. Immediate attention and therapy is the key to preventing sudden death. […] ALL siblings of known cases should be tested for MCADD whether or not they have a history of symptoms. […] Avoidance of fasting when stop IVI this may include complex carbohydrate in the form of cornstarch supplementation to get through the night as the child gets older and a high carbohydrate/low fat diet.

• #1 Julian’s Story – Faces of mito – Mito Foundation

  https://www.mito.org.au/mito-stories/julians-story/

  Julian has MCAD (medium chain acyll dehydrogenase), it’s one of a handful of ‘mitochondrial disorders’ included on the new born screen test. […] One of our hopes for the future is that ALL mitochondrial disorders are included in this test. Understanding the medical research behind your genetic faults and disorders will help future generations to manage and possibly diminish the suffering so many families have endured. […] Julian has been through many challenges growing up, but luckily we have managed the hardships with the help of this initial diagnosis. Straight off the bat, we had dietary regimes at home including researching and avoiding foods that withheld high amounts of medium chain fats such as coconut. In conjunction with extensive independent research, all of this has led to Julian’s ongoing health and success. […] We believe all mito patients deserve the right to live their best life, that can only happen with the vital medical research needed to help our future generations and bring genetic testing into the forefront of medical investigation.

• #1 History, current situation and future perspectives of neonatal screening for rare diseases in Spain

  https://aelmhu.es/en/articulos/cribado-neonatal-de-enfermedades-raras/

  In Spain, the first neonatal screening programme began in 1968, in Granada, for the early detection of phenylketonuria, at the initiative of Professor Federico Mayor Zaragoza. […] The first step towards the harmonisation of neonatal screening programmes by the Ministry of Health took place in July 2013, when the Interterritorial Council of the National Health System approved the basic common portfolio of health care services, which subsequently made neonatal screening for seven diseases mandatory by means of order SSI/2065/2014 of 6 November, which regulates population-based neonatal screening programmes for endocrine-metabolic diseases. These seven diseases are: congenital hypothyroidism, phenylketonuria, cystic fibrosis, sickle cell anaemia, glutaric aciduria type 1, medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHADD). […] From the Ministry of Health, the future outlook for neonatal screening in Spain is to continue progressing in the harmonisation of programmes and the evaluation of the inclusion of new candidate diseases.

• #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/

  Screening is important […] Babies identified at a young age through screening can be treated early to help prevent health problems. […] Follow-up testing is important to find out whether the baby truly has MCADD. […] Screening and treatment aim to prevent metabolic crises and allow children with MCADD to lead healthy lives. […] 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

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

  Babies with MCADD have a deficiency of the enzyme called medium-chain acyl-coA dehydrogenase, which is needed to turn fat into energy. […] However, with newborn screening and early treatment, this can be prevented. […] The information the team gives will cover: safe fasting times for day to day management (this changes with age older children can fast for much longer than babies) and a special feed to use during illnesses (called the emergency regimen). […] If your baby becomes ill, they might have an episode known as a metabolic crisis (also known as metabolic decompensation). […] To help prevent this from happening, you will be taught to give an emergency regimen, which involves specialist feeds and frequent feeding. […] With prompt use of the emergency regimen and avoidance of prolonged fasting, the outcome is usually very good and most children will avoid any long-term health problems.

• #1 Medium-chain acyl-CoA dehydrogenase deficiency | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/medium-chain-acyl-coa-dehydrogenase-deficiency/

  The key treatment for individuals with MCAD deficiency is to avoid fasting. Infants must be frequently fed a formula low in fat but high in carbohydrates. For children and adults, consuming cornstarch can also provide a sustained release of energy and allow for longer gaps between meals. […] Early diagnosis and dietary management are crucial for the best outcome. If dietary management starts early (especially before the onset of symptoms) and is consistent, individuals with MCAD deficiency have a good prognosis with normal or near-normal lifespan.

• #1 The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update | Genetics in Medicine

  https://www.nature.com/articles/gim200638

  The recent incorporation of medium chain acyl-CoA dehydrogenase deficiency (MCADD) in newborn screening programs has facilitated the expansion of epidemiologic knowledge of this treatable disorder. […] It is widely believed that adverse outcomes in MCADD can largely be prevented through avoidance of fasting, along with close attention by parents and clinicians during periods of infection and after immunizations. Energy-containing drinks should be consumed during periods of infection and anorexia. Hospitalization for administration of intravenous fluids is required if oral feeding attempts are unsuccessful. The only deaths after diagnosis of MCADD that have been reported in the published literature from the United States occurred in children in whom the diagnosis was made late or disease-management guidelines were not necessarily followed.

• #2 MCAD deficiency | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/mcad-deficiency

  MCAD deficiency is present from birth and is a lifelong condition. In the United States, all states test for MCAD deficiency at birth as part of newborn screening. Many other countries also provide routine newborn screening for MCAD deficiency. If MCAD deficiency is diagnosed and treated early, the disorder can be well managed through diet and lifestyle. […] 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. To maintain blood sugar levels and avoid hypoglycemia: Infants require frequent feedings that include getting enough calories from complex carbohydrates. Children and adults need to get enough complex carbohydrates on a regular schedule of meals and snacks.

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

  https://emedicine.medscape.com/%20https://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.

• #2 Medium chain acyl-CoA dehydrogenase deficiency (MCADD)

  https://www.medicalnewstoday.com/articles/medium-chain-acyl-coa-dehydrogenase-deficiency

  Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a genetic condition that prevents the body from breaking down fat stores for energy. […] Newborn screenings help diagnose MCADD early. Early diagnosis and proper management can lead to a very good outlook for someone with the condition. Long-term management can include strategies such as avoiding fasting and limiting fat intake. […] It is also important that people with MCADD follow certain dietary and lifestyle strategies to help reduce the chances of, or even prevent, hypoglycemia in the future. […] Long-term management aims to prevent MCADD from causing metabolic crises and to minimize the risk of complications. This involves: eating regularly, avoiding fasting or skipping meals, avoiding medium-chain triglycerides, which are a type of fat in coconut oil and some baby formulas, following a high complex carbohydrate, low fat diet.

• #2 MCAD deficiency | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/mcad-deficiency

  Recommendations to prevent low blood sugar called hypoglycemia generally include: Avoid fasting longer than recommended by your health care team. Eat regular meals and snacks with adequate calories from complex carbohydrates, such as brown bread, rice, pasta and cereal, for energy needs. […] Parent and family understanding of the condition is critical to ongoing care and prevention of low blood sugar episodes and other complications. Prevention tips include: Avoid skipping meals. Eat complex carbohydrates before extra activity or exercise. Eat complex carbohydrates before going to bed. Increase calories with extra complex carbohydrates during illness or stress. Always carry complex carbohydrate snacks. Always carry a source of simple carbohydrates to treat low blood sugar. Know the warning signs of low blood sugar and other symptoms of a metabolic crisis.

• #2

  https://journals.lww.com/md-journal/fulltext/2022/02180/anesthetic_management_of_patients_with_carnitine.26.aspx

  Moreover, propofol infusion should be avoided because propofol may not only induce propofol infusion syndrome but also increase long-chain fatty acid loading in patients with compromised fatty acid -oxidation. […] The prevention and treatment of hypoglycemia is important in patients with defects in the fatty acid -oxidation pathway, such as very long and medium chain acyl CoA dehydrogenase deficiency. […] Intraoperative monitoring, which includes blood glucose, electrolyte, acid-base balance, creatine kinase, and cardiac monitoring, such as intraoperative echocardiography, is essential for patients with carnitine deficiency or defects in the fatty acid -oxidation pathway.

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