Materiały źródłowe

• #1 Isovaleric acidaemia

  https://www.nhs.uk/conditions/isovaleric-acidaemia/

  Isovaleric acidaemia (IVA) is a rare, but potentially serious, inherited condition. […] 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. […] Without treatment, severe and life-threatening symptoms can develop in some children, including seizures (fits) or falling into a coma. […] 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. […] 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. […] Although it’s not possible to prevent IVA, it’s important to let your midwife and doctor know if you have a family history of the condition.

• #2 Isovaleric Acidaemia – Metabolic Support UKAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://metabolicsupportuk.org/condition/isovaleric-acidaemia/

  Isovaleric Acidaemia is caused by a problem in the IVD gene. This gene produces an enzyme which breaks down an amino acid called leucine. This process is needed because leucine is a part of many proteins which helps to provide energy to your body. […] There is no cure for Isovaleric Acidaemia, however there are a range of ways that the disorder can be managed successfully, and plans can be put in place to reduce the chances of the disorder getting worse. […] One of the most important ways to manage the disorder is through following a specific diet. It is recommended that you follow a low-protein diet, as people with Isovaleric Acidaemia are unable to process protein properly. […] It is likely that you will be told to ensure that you eat at regular intervals and avoid fasting. This is to ensure that your body has a consistent source of energy to function properly.

• #3 Isovaleric acidemia: Symptoms, causes, treatments, and more

  https://www.medicalnewstoday.com/articles/isovaleric-acidaemia

  Isovaleric acidemia (IVA) is a rare condition that children can inherit from both their biological parents. It can cause serious problems with how the body breaks down proteins. […] People can manage the condition and reduce their number of crises using specialist diets and medication. […] Treatment for IVA involves: managing the diet, taking medications that promote the breakdown of excess isovaleric acid, managing metabolic crises with emergency treatment. […] People with IVA need to avoid eating high protein foods, including: eggs, fish, meat, milk and dairy products, nuts, pulses, such as lentils, peas, and beans. […] A registered dietitian can recommend alternatives to breast milk, including a protein-free milk formula. This will contain other amino acids and all the necessary vitamins and minerals to support a growing infant.

• #4 Isovaleric acidemia | MedLink Neurology

  https://www.medlink.com/articles/isovaleric-acidemia

  Isovaleric acidemia can be easily diagnosed in newborn screening programs. […] If treatment is initiated before the development of severe metabolic decompensation, the patients prognosis can be significantly improved. […] Patients who are diagnosed by newborn screening usually have normal psychomotor development. […] Prenatal diagnosis is possible in families at risk. […] Newborn screening for isovaleric acidemia reduces mortality and morbidity. […] For neonates with a positive newborn screening result for isovaleric acidemia, the aim is to provide necessary treatment immediately while adjusting the treatment to the individual severity of the disease. […] If treatment is initiated before the development of severe metabolic decompensation, the patients prognosis can be significantly improved.

• #5 Clinical and neurocognitive outcome in symptomatic isovaleric acidemia | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-9

  Despite its first description over 40 years ago, knowledge of the clinical course of isovaleric acidemia (IVA), a disorder predisposing to severe acidotic episodes during catabolic stress, is still anecdotal. […] The potential to avoid neonatal mortality and to improve neurologic and cognitive outcome under early treatment reinforces IVA to be qualified for newborn screening. […] A better understanding of the clinical course of IVA is therefore required in order to allow for 1) an evidence-based decision-making on the inclusion of IVA in NBS programs and 2) a prospective assessment of patient outcome in countries in which IVA has already been incorporated into the NBS disease panel. […] The potential to avoid early mortality and to improve neurocognitive outcome by early diagnosis and treatment encourages pre-symptomatic diagnosis and reinforces IVA to be qualified for NBS.

• #6 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. […] 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.

• #7 Isovaleric Acidemia (IVA) | Newborn Screening Ontario

  https://www.newbornscreening.on.ca/en/results/screen-positive-results/disease-information/isovaleric-acidemia-iva/

  Screening can prevent: Treatment: 1 in 100,000 to 200,000 C5 Encephalopathy, neurologic damage, coma, death Avoid fasting, low protein diet, medication. […] Babies identified at a young age through screening can be treated early to help prevent health problems. […] Screening and treatment aim to prevent metabolic crises and help children with IVA live healthier lives. […] Screening and early treatment also help to prevent the symptoms of IVA which include: poor growth, low muscle tone, irritability, sweaty feet-like odor, difficulty staying warm, immune system problems, negative effects of metabolic crises including learning problems and intellectual disability. […] Treatment for IVA is started as early as possible and is usually life long. […] Frequent feeding, especially when ill (to prevent a metabolic crisis, babies with IVA must not go a long time without eating). […] A low protein diet and special leucine-free medical foods. […] Early treatment often allows babies with IVA to lead healthy lives with normal growth and intelligence.

• #8 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. 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.

• #9 Isovaleric acidemia | MedLink Neurology

  https://www.medlink.com/articles/isovaleric-acidemia

  Unfortunately, in the absence of newborn detection, there is often a marked delay in diagnosis, which may have serious adverse consequences for affected children. […] Once IVD pathogenic variants have been identified in an affected individual, biochemical or molecular genetic testing of all at risk siblings (of any age) is warranted to allow early diagnosis and treatment of classic isovaleric acidemia. […] Carrier testing for at risk relatives and prenatal and preimplantation genetic testing are possible.

• #10

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

  Untreated IVA can cause long-term health problems, including brain damage, but with newborn screening and early treatment this can be prevented. […] 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. […] It is therefore very important to get them tested if they have not been previously screened for IVA. […] The metabolic team will write a birth plan for you. This will include advice on an early screening test for your new baby which should be taken between 24 and 48 hours after birth.

• #11

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

  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. […] The risk of problems for babies with this variant is much lower than for those with the more serious variant of the disorder. Babies with mild IVA do not normally develop symptoms or need treatment while well. […] No special diet or medical treatment is required unless your baby becomes unwell. […] 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, the outcome is very good and most children with mild IVA will avoid any long-term health problems. […] It is therefore very important to get them tested if they have not been previously screened for IVA. […] The metabolic team will write a birth plan for you. This will include advice on an early screening test for your new baby which should be taken between 24 and 48 hours after birth.

• #12 Aspects of Newborn Screening in Isovaleric Acidemia

  https://www.mdpi.com/2409-515X/4/1/7

  During intercurrent illness, the production of isovaleryl-CoA might be increased due to a higher rate of breakdown of the endogenous protein. Therefore, the prevention of catabolic episodes is crucial. […] As for other classic organic acidurias, treatment with N-carbaglutamate has been suggested for the treatment of acute neonatal hyperammonemia in IVA. […] Individuals with this condition should also be counseled to follow an emergency protocol and to increase the intake of l-carnitine and energy during febrile illnesses.

• #12 Aspects of Newborn Screening in Isovaleric Acidemia

  https://www.mdpi.com/2409-515X/4/1/7

  Isovaleric acidemia (IVA), an inborn error of leucine catabolism, is caused by mutations in the isovaleryl-CoA dehydrogenase (IVD) gene, resulting in the accumulation of derivatives of isovaleryl-CoA including isovaleryl (C5)-carnitine, the marker metabolite used for newborn screening (NBS). […] Treatment strategies for the long-term management of symptomatic IVA comprise the prevention of catabolism, dietary restriction of natural protein or leucine intake, and supplementation with l-carnitine and/or l-glycine. […] Recommendations on how to counsel and manage individuals with the mild phenotype detected by NBS are required. […] Long-term treatment strategies aim to: (1) reduce the production of toxic metabolites by the restriction of protein or leucine intake; and to (2) enhance the conjugation of potentially toxic free isovaleric acid to its non-toxic conjugates isovalerylcarnitine and isovalerylglycine, which are excreted by the kidneys via supplementation of l-carnitine and/or l-glycine.

• #13 Orphanet: Isovaleric acidemia

  https://www.orpha.net/en/disease/detail/33

  Lifelong management is with a low protein diet. […] Children diagnosed with IVA should be referred to a metabolic dietician who can tailor the diet to support normal growth and development. […] Supplementing with artificial protein restricted in leucine may be required. […] 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.

• #14 Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria

  https://www.mdpi.com/2075-4418/10/10/738

  In 2014, the web-based E-IMD IVA Guidelines were published, which stated that natural protein intake should be restricted to reduce the isovaleric acid burden but should satisfy at least the WHO/FAO/UNU 2007 safe levels of protein intake. […] According to data published so far, early diagnosis and treatment in the outcome of organic acidemias are crucial. […] Our practice suggests that early diagnosis, either through NBS or FS, resulting in the early introduction of a special diet, might not prevent metabolic decompensations, but provides a good clinical outcome. […] If decompensation occurs, it is milder and without severe, persistent complications.

• #14 Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria

  https://www.mdpi.com/2075-4418/10/10/738

  Isovaleric acidemia (IVA) is an autosomal recessive leucine inborn error of metabolism caused by isovaleryl-CoA dehydrogenase deficiency. […] The aim of this study was to analyze clinical and neurological outcomes in Polish patients with IVA. […] The median follow-up time (median; Q1–Q2) was 2.5 years (1.5–9.0) for newborn screening (NBS) and family screening (FS) children, and 17 years (5.0–20) for symptomatic patients. […] We can conclude that long-term clinical and neurological outcomes of patients with IVA were satisfactory as a result of an early diagnosis and proper management. […] Although early treatment did not prevent decompensations, they were milder in these patients. […] It is important to identify and eliminate it. […] Additionally, carnitine and/or glycine is administered to enhance the conversion of potentially neurotoxic products (free isovaleric acid) into non-toxic carnitine and glycine conjugates which are easily excreted in the urine.

• #15 Isovaleric Acidaemia (IVA) – Inherited Metabolic Disorders in Scotland

  https://www.imd.scot.nhs.uk/isovaleric-acidaemia-iva/

  Babies with IVA benefit significantly from early treatment and can live healthy and active lives. […] Without early diagnosis and treatment they can develop serious illness and damage to the brain. […] Treatment for IVA involves a special low protein diet and medication. […] The aim of the diet is to reduce the build-up of leucine, which can cause metabolic crisis and learning difficulties. […] This special infant formula is very important as it allows normal growth and development and helps to reduce the build-up of the harmful toxins in the brain. […] Medications called L-Carnitine and/or Glycine are used to help clear some of the body’s toxins. These medications are taken by mouth and obtained on prescription through your doctor. They need to be taken regularly even when your baby is ill.

• #16 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. […] If your baby shows any of these signs, be sure to contact your baby’s doctor immediately. […] 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. […] It is also important for your baby to eat often. Long periods of time without food, illnesses, and infections can also trigger many of the signs of IVA. […] With early and careful treatment, your child will most likely have a healthy life with typical growth and development. […] 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. […] Because IVA is a genetic condition, you may want to talk with a genetics specialist.

• #17 IVA (isovaleric acidemia) – newbornscreening.info

  https://www.newbornscreening.info/iva-isovaleric-acidemia/

  Children with IVA need to eat more carbohydrates and drink more fluids when they are ill even if theyre not hungry or they could have a metabolic crisis. […] With prompt and careful treatment, children with IVA have a good chance to live healthy lives with typical growth and development. […] Even when treated, some children still have repeated bouts of metabolic crisis. This can lead to life-long learning problems or intellectual disabilities.

• #17 IVA (isovaleric acidemia) – newbornscreening.info

  https://www.newbornscreening.info/iva-isovaleric-acidemia/

  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. […] The following are treatments often recommended for babies and children with IVA: […] 1. Low-leucine diet, medical foods, and formula Most children need to eat a diet made up of foods low in leucine. […] 2. Medications Glycine is an amino acid that helps the body get rid of isovaleric acid. It is often given as a supplement to children with IVA. It may help prevent metabolic crises. […] 3. Call your doctor at the start of any illness In some children, even minor illnesses such as a cold or the flu can lead to a metabolic crisis.

• #18 Isovaleric acidemia: Symptoms, causes, treatments, and more

  https://www.medicalnewstoday.com/articles/isovaleric-acidaemia

  Dietary changes are lifelong for people with IVA. A dietitian can advise on changing the diet as an infant grows. […] Prescription medications that can reduce the amount of leftover valeric acid include L-carnitine and glycine. Some people may need to take both. […] The risk of a metabolic crisis becomes higher if a child catches a cold or other tract infection. During this time, a child may need to follow an emergency diet consisting of specialized, high sugar drinks. […] It is important to contact the metabolic team at the nearest hospital if a child with IVA vomits up their emergency fluids or regularly has diarrhea during feeding. […] After an IVA diagnosis, people will need to avoid high protein food and take lifelong medications to clear waste acids from the body. However, those with IVA can have a typical life expectancy with effective treatment.

• #19 Isovaleric acidemia – Knowledge and References – Taylor & Francis

  https://taylorandfrancis.com/knowledge/Medicine_and_healthcare/Endocrinology/Isovaleric_acidemia/

  Isovaleric acidemia is caused by a deficiency of the enzyme isovaleryl Co-A dehydrogenase which is in the leucine degradative pathway. The abnormal accumulation of isovalerylglycine is diagnostic. Most patients develop vomiting, acidosis, lethargy, and coma in the newborn period, while others have these symptoms only associated with an underlying illness. Isovaleric acidemia responds well to treatment with supplemental glycine (250 mg/kg) which binds with the isovaleric acid and is excreted as isovalerylglycine. Carnitine supplementation (100 mg/kg) may also be added to the treatment regimen as a binding agent. […] The majority of OAs causing hyperammonemia results from a defect in the branched-chain amino acids (BCAAs) catabolism. The most important are propionic acidemia (PA, OMIM #606054), methylmalonic acidemia (MMA, OMIM #251000), and isovaleric acidemia (IVA, OMIM #243500). Hyperammonemia may be also a feature of severe forms of maple syrup urine disease (MSUD, OMIM #248600).

• #20 TREATMENT OF ISOVALERIC ACIDEMIA WITH GLYCINE SUPPLEMENTS | Pediatric Research

  https://www.nature.com/articles/pr1987839

  Isovaleric Acidemia is treated with L-leucine restriction and supplemental glycine. Added glycine augments conversion of isovaleric acid (IVA) to isovalerylglycine (IVG) through glycine-N-acylase. The optimum glycine dosage for management of isovaleric acidemia is not known. […] We conclude that when IVA accumulation is minimal, optimum glycine dosage is 150 mg/kg/d; under these conditions glycine intakes of 300 and 600 mg/kg/d inhibit IVG production. However, when acute insults raise IVA production glycine supplements of 600 mg/kg/d increase IVG production two fold.

• #21 The Treatment of Isovaleric Acidemia with Glycine Supplement | Pediatric Research

  https://www.nature.com/articles/pr1988373

  ABSTRACT: Although dietary leucine restriction and supplemental glycine are used to treat patients with isovaleric acidemia, little quantitative information is available regarding their optimum relationship. […] We found that under stable conditions of leucine restriction, 150 mg glycine/kg/day is an optimum glycine supplement and that glycine supplements of more than 250 mg/kg/day may result in reduced isovalerylglycine production; that when isovaleric acid accumulation is increased, glycine supplements to 600 mg/kg/day will increase isovalerylglycine production; and that the phenotype of isovaleric acidemia is related not only to the extent of impaired isovaleryl-CoA dehydrogenase, but also the ability to detoxify accumulated isovaleryl CoA to isovalerylglycine.

• #22

  https://www.zana.com/a/isovaleric-acidaemia-treating-iva.6795

  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. […] 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 will be prescribed medication to help clear some of the excess isovaleric acid. […] Medication for IVA needs to be taken regularly, as directed by your doctor. […] If your baby develops an infection, such as a high temperature or cold, their risk of having a metabolic crisis increases. It’s possible to reduce the risk by changing to an emergency diet while they’re ill. […] 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.

• #23 An unusual case of oral surgical management in a patient with isovaleric acidemia and schizophrenia: A case report

  https://www.spandidos-publications.com/10.3892/br.2022.1547

  Oral/dental surgical care in patients with chronic medical comorbidities, such as isovaleric acidemia (IVA), can be challenging. […] However, only a few reported experiences or guidelines exist, reporting appropriate perioperative management strategies to minimize risks. […] Through careful perioperative evaluation and management strategies, significant challenges to dental surgery in patients with coexisting comorbidities, such as schizophrenia and IVA, can be minimized. […] Considering published reports, the appropriate treatment/prevention strategy for comorbid dental diseases in IVA and schizophrenia diagnosis was surgery and antibiotic administration. […] Therefore, avoiding antibiotics containing pivalate, which can increase acylcarnitine levels is recommended. […] For the above reasons, it is paramount that patients with IVA are subjected to a detailed management action plan that can effectively reduce the risks of complications of surgery. […] The surgical management of comorbid dental diseases in mental and metabolic disorders is associated with an increased risk of postoperative complications. However, safe and effective treatment is achievable with careful perioperative considerations, as highlighted above.

• #24 | 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.

• #25 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.

• #26 Branched-Chain Amino Acid Metabolism Disorders – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/inherited-disorders-of-metabolism/branched-chain-amino-acid-metabolism-disorders

  Isovaleric acidemia is also known as sweaty feet syndrome, because accumulated isovaleric acid emits an odor that smells like sweat. […] Acute treatment of isovaleric acidemia is with IV hydration and nutrition (including high-dose dextrose) and measures to increase renal isovaleric acid excretion by conjugation with glycine. If these measures are insufficient, exchange transfusion and peritoneal dialysis may be needed. Long-term treatment is with dietary leucine restriction and continuation of glycine and carnitine supplements. […] Prognosis is excellent with treatment.

• #27 Isovaleric Acidemia – DoveMed

  https://www.dovemed.com/diseases-conditions/isovaleric-acidemia

  A prompt and proper treatment from a very early age is necessary to prevent severe signs and symptoms or adverse complications from developing. The treatment measures include dietary changes, such as having a low-leucine diet, avoidance of certain high-protein foods, and prescription medications […] In order to prevent metabolic crisis, prompt treatment of Isovaleric Acidemia is essential. Although, there is no cure to eliminate IVA, changes in diet have been shown to improve the symptoms […] Currently, there are no specific methods or guidelines to prevent Isovaleric Acidemia genetic condition. Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy. If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child. Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders.

• #28

  https://www.ijpediatrics.com/index.php/ijcp/article/view/2938

  Isovaleric Acidemia (IVA) is inherited as an autosomal recessive trait, caused by the deficiency of the enzyme isovaleryl CoA dehydrogenase. […] Early diagnosis early initiation of treatment has been reported to correlate with a good neurocognitive outcome. […] Early diagnosis and early treatment of IVA cases definitely results in favorable outcome and better prognosis. But chronic intermittent cases presenting late should not be neglected, proper medical management can reverse neuromotor consequences in them also.

• #29 Newborn Bloodspot Screening – Your baby’s screening result – Isovaleric acidaemia (IVA) is suspected – Public Health Wales

  https://phw.nhs.wales/services-and-teams/screening/newborn-bloodspot-screening-wales/information-resources/leaflets/information-for-parents/newborn-bloodspot-screening-your-babys-screening-result-isovaleric-acidaemia-iva-is-suspected/

  Isovaleric acidaemia (IVA) is a rare but treatable inherited disorder that prevents the normal breakdown of protein. […] Babies with IVA benefit significantly from early treatment and can live healthy and active lives. […] Without early diagnosis and treatment they can develop serious illness and damage to the brain. […] IVA can be treated with a special low-protein diet and dietary supplements. This prevents the build-up of harmful substances. […] It is important that babies with IVA feed regularly and do not go for long periods without eating. […] If IVA is confirmed, your specialist metabolic team will explain how to give your baby the special low-protein diet. […] If you are concerned about poor feeding or that your baby is unwell, contact your specialist metabolic team.

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