Materiały źródłowe

• #1 Isovaleric acidaemia | Health Information from Future Care Pharmacy

  https://futurecarepharmacy.co.uk/nhs_conditions_isovaleric-acidaemia

  Isovaleric acidaemia (IVA) is a rare, but potentially serious, inherited condition. It means the body can’t process the amino acid leucine (amino acids are „building blocks” of protein). This causes a harmful build-up of the substance in the blood and urine. […] If IVA is diagnosed, treatment can be given straight away to reduce the risk of serious complications. Treatment includes a special diet, advice and sometimes medicine. […] With early diagnosis and the correct treatment, the majority of children with IVA are able to live healthy lives. However, treatment for IVA must be continued for life. […] Children diagnosed with IVA are referred to a specialist metabolic dietitian and given a low-protein diet. This is tailored to reduce the amount of leucine your baby receives. […] Your child may be prescribed medicine to help clear some of the excess isovaleric acid.

• #2 Isovaleric Acidemia (IVA) | Revvity

  https://www.revvity.com/disorders/isovaleric-acidemia-iva

  Isovaleric acidemia results from a defect in the metabolism of the amino acid, leucine. […] Treatment of patients with isovaleric acidemia involves reducing protein intake, particularly the branched-chain amino acid leucine. During an acute episode, aggressive use of glucose and electrolytes is necessary. Glycine supplementation has proven beneficial because this amino acid is conjugated to isovalerate, forming the less harmful isovalerylglycine. Carnitine treatment is similarly effective. Strict dietary control and aggressive treatment have resulted in normal development in some patients. However, many patients with isovaleric acidemia show neurologic abnormalities from acute illness. […] Because the diagnosis and therapy of isovaleric acidemia is complex, the pediatrician is advised to manage the patient in close collaboration with a consulting pediatric metabolic disease specialist and dietician. It is recommended that parents travel with a letter of treatment guidelines from the patient’s physician.

• #3 Branched-Chain Amino Acid Metabolism Disorders – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/branched-chain-amino-acid-metabolism-disorders

  When the amino acid leucine is not properly metabolized, harmful levels of isovaleric acid build up in the body. In isovaleric acidemia, the enzyme needed to break down leucine, called isovaleryl CoA dehydrogenase, is not present or not working correctly. Isovaleric acidemia is also known as „sweaty feet” syndrome because accumulated isovaleric acid gives off an odor that smells like sweat. […] To treat isovaleric acidemia, doctors give hydration and nutrition (including high doses of the sugar dextrose) by vein and glycine supplements to help the body get rid of the excess acid. If these measures do not help, doctors may need to remove small amounts of the infants blood (1 syringe at a time) and replace it with equal volumes of fresh donor blood (called an exchange transfusion) and remove substances from the blood via a catheter inserted through the abdominal wall into the abdomen (called peritoneal dialysis). All affected people need to restrict their consumption of leucine and continue to take supplements of glycine and another amino acid called carnitine. […] The prognosis is excellent with treatment.

• #4 Newborn screening information for isovaleric acidemia | Baby’s First Test | Newborn Screening | Baby Health

  https://www.babysfirsttest.org/newborn-screening/conditions/isovaleric-acidemia

  Isovaleric acidemia (IVA) is an inherited condition in which the body is unable to break down certain proteins properly. […] If untreated, IVA can cause brain damage and even death. However, if the condition is identified early in life and proper treatment is begun, children with IVA often can lead healthy lives. […] Your baby will need to be on a carefully planned diet in order to avoid the proteins and amino acids (building blocks of proteins) that may trigger many of the signs mentioned in the Early Signs section. Your baby’s doctor may recommend special formulas or foods made for children with isovaleric acidemia (IVA). These formulas will likely continue through adulthood. […] With early and careful treatment, your child will most likely have a healthy life with typical growth and development.

• #5 Newborn screening information for isovaleric acidemia | Baby’s First Test | Newborn Screening | Baby Health

  https://www.babysfirsttest.org/newborn-screening/conditions/isovaleric-acidemia

  Without treatment, babies with isovaleric acidemia (IVA) can suffer brain damage or even die within the first year of life. […] 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, or other medical resources in your community.

• #6 Isovaleric acidaemia – Genomics Education Programme

  http://www.genomicseducation.hee.nhs.uk/documents/isovaleric-acidaemia/

  Treatment is managed by a multi-disciplinary team at specialised metabolic centres. […] The main goal of management is to reduce the production and increase the excretion of isovaleryl-CoA. […] Dietary treatment is focused on a low-protein, leucine-restricted diet. […] Patients may also be supplemented with carnitine and/or glycine. Carnitine and glycine are used to reduce isovaleric acid levels by the formation of the isovaleryl-CoA conjugates, which can then be excreted in the urine.

• #7 Trait Document | My46

  https://www.my46.org/trait-document?trait=Isovaleric%20acidemia&parent=Carrier%20Status&type=profile

  Isovaleric acidaemia is a rare condition characterized by the bodys inability to fully break down a certain amino acid called leucine. […] Individuals with IVA are typically managed by a team of specialty providers that can include: geneticists, genetic counselors, primary care doctors, nutritionists, and social workers. […] It is recommended that an emergency treatment plan, often documented by an Emergency Letter is made to ensure that during times of illness or other metabolic stress, a child with IVA will be assessed for signs and symptoms of a metabolic crisis (e.g., poor feeding, vomiting, lethargy, excessive sleepiness, irritability) and given appropriate medical attention. […] It is of upmost importance that individuals with IVA adhere to their specific diet and treatment plans to avoid metabolic stress and/or crisis.

• #8 Classic Isovaleric Acidemia – PubMed

  https://pubmed.ncbi.nlm.nih.gov/38484105/

  Management: Targeted therapy: Low-leucine/protein-reduced diet and the supplementation of a leucine-free formula in infants or leucine-free amino acid mixture in older children; carnitine and/or glycine supplementation. […] Supportive care: Routine daily treatment includes education of affected individuals and caregivers about the natural history, maintenance and emergency treatment, prognosis, and risks of acute encephalopathic crises; emergency treatment letter and MedicAlert; management of movement disorder per neurologist; physical therapy and aggressive rehabilitation therapy for gross motor delay; notify metabolic center prior to planned surgeries; consult metabolic disease specialist with any emergency surgery/procedure. […] Emergency outpatient treatment includes carbohydrate supplementation orally or via tube feeding, transient reduction of natural protein intake, elevation of carnitine supplementation, and glycine; antipyretics for fever; antiemetics for vomiting.

• #9

  https://www.gov.uk/government/publications/iva-is-suspected-description-in-brief/isovaleric-acidaemia-iva-detailed-information

  Isovaleric acidaemia (pronounced iso-val-air-ik acid-ee-mia), or IVA, is a rare but treatable inherited metabolic disorder that prevents the normal breakdown of protein. […] If your baby does have IVA, the metabolic team will: explain the condition in detail and answer any questions you might have […] The metabolic team will see you regularly throughout your child’s life and your child will remain under their care. […] 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. […] The metabolic team will teach you how to look after your child during illness. […] With treatment, the outcome is usually very good and most children with IVA will avoid any long-term health problems. […] Your other children might be at risk of IVA even if they have never shown any symptoms. […] The metabolic team will write a birth plan for you.

• #10 NEWBORN SCREENING

  http://w.newbornscreening.info/Parents/organicaciddisorders/IVA.html

  This fact sheet contains general information about IVA. Every child is different and some of these facts may not apply to your child specifically. Certain treatments may be recommended for some children but not others. All children with IVA should be followed by a metabolic doctor in addition to their primary doctor. […] Your babys primary doctor will work with a metabolic doctor and a dietician experienced with IVA to care for your child. […] Prompt treatment is needed to prevent metabolic crises and the health effects that follow. You should start treatment as soon as you know your child has IVA. Certain treatments may be advised for some children but not others. Treatment is usually needed throughout life. […] Children with symptoms of a metabolic crisis need medical treatment right away. They may need to be treated in the hospital. During a metabolic crisis, children may be given bicarbonate, glucose, and other medications by IV to help reduce the acid levels in the blood. […] With prompt and careful treatment, children with IVA have a good chance to live healthy lives with typical growth and development.

• #11 Anesthesia Experts | Anesthetic Management of a Patient with Isovaleric Acidemia

  https://anesthesiaexperts.com/anesthetic-management-patient-isovaleric-acidemia/

  A 3-year-old male with isovaleric acidemia presented for dental rehabilitation under general anesthesia. […] Communication between the anesthesiology, dental, and endocrine teams allowed for safe and successful care of the patient. […] Therapy consists of 3 goals. The first is preventing a metabolic crisis using careful clinical observation and encouraging anabolism in times of metabolic stress, including illness, fasting, and surgery, by both administering oral solutions with simple sugars to increase oral intake and reducing leucine intake by using leucine-free formula or powders for nutrition. […] The second goal of therapy is reducing production of isovaleryl-CoA from leucine catabolism through dietary manipulation. […] The third goal of therapy is reducing accumulation of toxic metabolites by diverting isovaleryl-CoA toward reactions that are nontoxic and can be easily excreted.

• #12 Isovaleric acidemia | Newborn Screening

  https://newbornscreening.hrsa.gov/conditions/isovaleric-acidemia

  Isovaleric acidemia is an inherited (genetic) condition that prevents the body from breaking down certain proteins. […] It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition. […] Treatments may include the following: Frequent feedings to avoid long periods without food, Glycine supplements, L-carnitine supplements, Diet of special formulas or foods in some cases. […] Children who receive early and ongoing treatment for isovaleric acidemia can have healthy growth and development.

• #13 | Myriad Prequel® Prenatal Screen

  https://myriad.com/womens-health/diseases/isovaleric-acidemia/

  Individuals with IVA need a special diet, which is low in leucine and contains proteins. For example, infants may be treated with a leucine-free formula. The supplements carnitine and glycine can reduce the toxicity of isovaleric acid and aid in its removal from the body. […] Individuals with IVA need close monitoring by a physician during times of illness and may need to ensure adequate hydration and adopt a diet high in carbohydrates. Symptoms such as vomiting, diarrhea, and illness with a fever may require prompt treatment. […] Frequent monitoring of individuals with IVA is important to determine that proper growth, metabolism, and development is ongoing.

• #14 Isovaleric acidaemia | Health Information from Future Care Pharmacy

  https://futurecarepharmacy.co.uk/nhs_conditions_isovaleric-acidaemia

  Isovaleric acidaemia (IVA) is a rare, but potentially serious, inherited condition. It means the body can’t process the amino acid leucine (amino acids are „building blocks” of protein). This causes a harmful build-up of the substance in the blood and urine. […] If IVA is diagnosed, treatment can be given straight away to reduce the risk of serious complications. Treatment includes a special diet, advice and sometimes medicine. […] With early diagnosis and the correct treatment, the majority of children with IVA are able to live healthy lives. However, treatment for IVA must be continued for life. […] Children diagnosed with IVA are referred to a specialist metabolic dietitian and given a low-protein diet. This is tailored to reduce the amount of leucine your baby receives. […] Your child may be prescribed medicine to help clear some of the excess isovaleric acid.

• #15 Isovaleric acidaemia | Health Information from Niva Pharmacy

  https://nivapharmacy.co.uk/nhs_conditions_isovaleric-acidaemia

  Isovaleric acidaemia (IVA) is a rare, but potentially serious, inherited condition. It means the body can’t process the amino acid leucine (amino acids are „building blocks” of protein). This causes a harmful build-up of the substance in the blood and urine. […] Babies with IVA are unable to fully break down the amino acid leucine. […] If IVA is diagnosed, treatment can be given straight away to reduce the risk of serious complications. Treatment includes a special diet, advice and sometimes medicine. […] With early diagnosis and the correct treatment, the majority of children with IVA are able to live healthy lives. However, treatment for IVA must be continued for life. […] Children diagnosed with IVA are referred to a specialist metabolic dietitian and given a low-protein diet. This is tailored to reduce the amount of leucine your baby receives.

• #16 Case Report and Follow up of a Neonate with Isovaleric Acidemia at a Tertiary Care Centre

  https://jmscr.igmpublication.org/home/index.php/archive/171-volume-08-issue-02-february-2020/8810-case-report-and-follow-up-of-a-neonate-with-isovaleric-acidemia-at-a-tertiary-care-centre

  We report a case of neonate who was clinically normal at birth and was on direct breast feeds. […] Baby was started on specialized formula feeds (Leucine free diet). Baby was also continued on quantified amounts of breast feeds. […] Baby was discharged with leucine free diet carnitine supplementation which promotes normal development of infant. […] Serial monitoring of growth parameters was done which was appropriate for age and serum aminoacid levels were monitored which was normal.

• #17 Isovaleric acidaemia | Health Information from Niva Pharmacy

  https://nivapharmacy.co.uk/nhs_conditions_isovaleric-acidaemia

  Your dietitian will provide detailed advice and guidance, as your baby still needs some of these foods for healthy growth and development. […] People with IVA need to follow a modified diet for the rest of their life to reduce their risk of a metabolic crisis. […] Your child may be prescribed medicine to help clear some of the excess isovaleric acid. […] If your baby develops an infection, such as a high temperature or cold, their risk of having a metabolic crisis increases. […] Your dietitian may provide you with a feeding tube (nasogastric tube) and show you how to use it safely. This can be useful in an emergency if your baby isn’t feeding well while they are ill. […] You should also take your baby to hospital if they develop symptoms of a metabolic crisis, such as irritability, loss of energy or breathing difficulties.

• #18 Isovaleric Acidemia — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/isova

  The goal for calories during a period of decompensation, to support anabolism, would be about 20% greater than ordinary maintenance needs. […] An acute metabolic decompensation in a patient with IVA is almost always precipitated by a stressor, such as infection, injury, surgery, hormonal changes, or significant dietary changes (involving increased protein intake). […] The patient should be kept NPO until his/her mental status is improved. Anorexia and nausea/vomiting during the acute crisis period makes a significant oral intake unlikely. […] Each day, the nurses caring for the patient should review the menu with the parents or the nutritionists to avoid dietary mistakes; these do happen and can be disastrous in the peri-crisis period.

• #19 Classic Isovaleric Acidemia – PubMed

  https://pubmed.ncbi.nlm.nih.gov/38484105/

  Acute inpatient treatment includes stopping protein intake, intravenous glucose, and hydration with normal saline; adjusting treatments for new or evolving neurologic manifestations; consider buffers as needed for life-threatening metabolic acidosis; nitrogen scavengers for hyperammonemia. […] Surveillance: Quantitative analysis of plasma amino acids at least every three months until age one year, every six months from age one to six years, and annually in those age six years and older; blood gases, albumin, calcium, phosphate, parathyroid hormone, complete blood count, and vitamin B12 at least annually in those on a protein-restricted diet; measurement of growth and head circumference at each visit throughout childhood; monitor weight throughout adulthood; monitor developmental milestones at each visit; neuropsychological testing and standardized quality-of-life assessments as needed; assessment of movement disorder at each visit. […] Evaluation of relatives at risk: Biochemical or molecular genetic testing of all at-risk sibs of any age is warranted to allow for early diagnosis and treatment of classic IVA.

• #20 Classic Isovaleric Acidemia – PubMed

  https://pubmed.ncbi.nlm.nih.gov/38484105/

  Clinical characteristics: Individuals with clinical manifestations of isovaleric acidemia (IVA) have either classic IVA identified on newborn screening or classic IVA with a later diagnosis due to a missed diagnosis or later onset of clinical manifestations. Classic IVA is characterized by acute metabolic decompensations (vomiting, poor feeding, lethargy, hypotonia, seizures, and a distinct odor of sweaty feet). Acute metabolic decompensations are typically triggered by fasting, (febrile) illness (especially gastroenteritis), or increased protein intake. Clinical deterioration often occurs within hours to days after birth. Additional manifestations of classic IVA include developmental delay, intellectual disability and/or impaired cognition, epilepsy, and movement disorder (tremor, dysmetria, extrapyramidal movements). Early treatment in those identified by newborn screening can significantly reduce morbidity and mortality in individuals with classic IVA.

• #21 Isovaleric Acidemia — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/isova

  This acute illness protocol is a guideline for healthcare professionals treating the sick infant or child who is known to have isovaleric acidemia. […] It is essential to call or page the on-call genetics/metabolism fellow, or failing this, the on-call metabolic attending at your hospital or nearest pediatric tertiary care center, as rapidly as possible. […] Parents of children with diagnosed metabolic disorders know the signs of decompensation in THEIR children. It is important to listen to the parents insight into their childs illness. […] All protein intake should be halted once it is determined that a patient with IVA is having a metabolic decompensation severe enough to need acute metabolic management. […] In a metabolic crisis, a patient with IVA should receive high rate intravenous fluids (either via a peripheral venous line or a central venous line) for rehydration purposes and also for provision of calories.

• #22 Anesthesia Experts | Anesthetic Management of a Patient with Isovaleric Acidemia

  https://anesthesiaexperts.com/anesthetic-management-patient-isovaleric-acidemia/

  Providing anesthesia for these patients may be challenging because severe metabolic acidosis and metabolic derangements can lead to serious arrhythmias, neurologic sequelae, and hemodynamic instability. […] Anesthesiologists caring for patients with isovaleric acidemia should be aware of the complex preparation required for provision of a safe and effective anesthetic plan. […] Careful preoperative planning should involve those already caring for the patient to facilitate the likelihood of a favorable outcome following anesthesia and surgery.

• #23 Isovaleric Acidemia Presenting as Diabetic Ketoacidosis: A Case Report – Journal of Clinical Research in Pediatric Endocrinology

  https://jcrpe.org/articles/isovaleric-acidemia-presenting-as-diabetic-ketoacidosis-a-case-report/doi/Jcrpe.1181

  Isovaleric acidemia (IVA) is characterized by periodic vomiting, lethargy, coma, ketoacidosis and a ‘sweaty feet’ odor. […] The treatment of acute metabolic decompensation in IVA cases comprises a high-caloric infusion therapy, correction of the metabolic acidosis and supplementation with L-carnitine and L-glycine to enhance the detoxification of isovaleric acid (11). […] This case illustrates that organic acidemias should be kept in mind in the differential diagnosis of DKA. Acute episodes may be misdiagnosed as DKA due to the hyperglycemia, the acidosis and presence of ketones in blood and urine.

• #24 Isovaleric Acidemia (IVA) – Baby Detect

  https://babydetect.com/en/isovaleric-acidemia-iva/

  Babies with a positive genetic test (having 2 pathogenic variants or 2 copies of a single pathogenic variant in the IVD gene) should continue breastfeeding, avoid fasting or high-protein baby formulas. Early treatment is essential in preventing chronic symptoms. […] IVA is a lifelong disease that requires lifetime management and regular follow-up with a metabolic physician and dietician, a part from a multidisciplinary approach to care. […] Emergency treatment in times of metabolic stress (including illness and fasting) is with an anabolic diet. Reducing, but not eliminating, natural protein in the diet for 12-24 hours may help, but only if additional other calories can be given to promote anabolism. […] Prognosis for patients diagnosed by newborn screening is excellent with the potential for normal neurodevelopmental outcome with appropriate metabolic management. […] So compliance with dietary treatment saves lives.

• #25 Two Siblings Born With Isovaleric Acidemia: One Caught by Newborn Screening, One Wasn’t – APHL Blog

  https://www.aphlblog.org/two-siblings-born-with-isovaleric-acidemia-one-caught-with-newborn-screening-one-wasnt/

  With spring in the air, the temperatures are climbing, the famous cherry blossoms have reached peak bloom and once again, the baseball and softball fields have come alive in Northern Virginia. For most kids, it is a given that they will be on the field with the other kids in the spring, but for a child like Caroline, living with a life threatening inborn error of metabolism called isovaleric acidemia (IVA), it is a gift. IVA is a disorder in which one’s body is unable to break down the amino acid leucine. Leucine, a by-product of protein, produces isovaleric acid that is toxic to the body. Early detection of her disorder by newborn screening has enabled Caroline to have appropriate life-long medical intervention and management of her disorder, so that she has the strength and good health to play ball…something we never take for granted.

• #26 Two Siblings Born With Isovaleric Acidemia: One Caught by Newborn Screening, One Wasn’t – APHL Blog

  https://www.aphlblog.org/two-siblings-born-with-isovaleric-acidemia-one-caught-with-newborn-screening-one-wasnt/

  The diagnosis of isovaleric academia came too late to prevent severe brain damage. […] However, it inspired me to become an advocate for expanded newborn screening at the state and national level to help prevent other babies and children from sharing Stephen’s fate. […] Together, Stephen and Caroline are a clear representation of the importance of newborn screening and the dramatic consequence with and without…a forever reminder every baseball/softball season.

• #27 Two Siblings Born With Isovaleric Acidemia: One Caught by Newborn Screening, One Wasn’t – Complex Child

  https://complexchild.org/articles/2013-articles/july/isovaleric-acidemia/

  With spring in the air, the temperatures are climbing, the famous cherry blossoms have reached peak bloom, and once again, the baseball and softball fields have come alive in Northern Virginia. […] For a child like Caroline, living with a life threatening inborn error of metabolism called isovaleric acidemia (IVA), it is a gift. IVA is a disorder in which one’s body is unable to break down the amino acid leucine. Leucine, a byproduct of protein, produces isovaleric acid that is toxic to the body. Early detection of her disorder by newborn screening has enabled Caroline to have appropriate life-long medical intervention and management of her disorder, so that she has the strength and good health to play ball—something we never take for granted. […] The devastation of what Stephen endured was compounded by the realization that it could have been prevented had he been screened for IVA at birth. However, it inspired me to become an advocate for expanded newborn screening at the state and national level to help prevent other babies and children from sharing Stephen’s fate. […] Together, Stephen and Caroline are a clear representation of the importance of newborn screening and the dramatic consequence with and without—a forever reminder every baseball/softball season.

• #28 Isovaleric Acidemia (IVA) | New York State Department of Health, Wadsworth Center

  https://www.wadsworth.org/public-health-programs/newborn-screening/newborn-screening-program/isovaleric-acidemia-iva

  Treatment is typically dietary management, including careful monitoring of protein intake and supplementing with specialized leucine-free formula. […] Additional medical care, including admission to the hospital for intravenous feedings, may be required during times of illness. […] Patients with an abnormal newborn screen for IVA are referred to an Inherited Metabolic Disorder Specialty Care Center for evaluation by a biochemical geneticist trained in the diagnosis and treatment of IVA.

• #29 Isovaleric Acidemia (IVA)

  https://www.wadsworth.org/node/2622/printable/print

  Treatment is typically dietary management, including careful monitoring of protein intake and supplementing with specialized leucine-free formula. Additional medical care, including admission to the hospital for intravenous feedings, may be required during times of illness. […] Patients with an abnormal newborn screen for IVA are referred to an Inherited Metabolic Disorder Specialty Care Center for evaluation by a biochemical geneticist trained in the diagnosis and treatment of IVA.

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