Disease Information for Isovaleric acidemia (Clinical Manifestations)

Isovaleric acidemia

Metabolic enzyme defect of isovaleryl-CoA dehydrogenase; onset in infancy with episodic acidosis, lethargy, vomiting, relapsing; growth retardation; sweaty feet smell to body odor worse with episodes; urine isovalerylglycine and 3-hydroxyisovaleric acid very high during attacks;<br>

Current Pediatric DXRX 14th ed 1999 Hay and Sondheimer.<br>

-----------------------------------------Medline -Isovaleric academia: People with this disorder have inadequate levels of an enzyme that helps break down the amino acid leucine, a building block of proteins; Mutations in the IVD gene cause isovaleric acidemia; This condition is inherited in an autosomal recessive; Synonym/Isovaleric acid-CoA dehydrogenase deficiency;Synonym/Isovaleryl-CoA dehydrogenase deficiency ;Synonym/IVD deficiency; The enzyme made by the IVD gene plays an essential role in breaking down proteins from the diet; Specifically, the enzyme is responsible for the third step in processing leucine, an amino acid that is part of many proteins; If a mutation in the IVD gene reduces or eliminates the activity of this enzyme, the body is unable to break down leucine properly; As a result, a molecule called isovaleric acid and related compounds build up to harmful levels, damaging the brain and nervous system; In about half of cases, the signs and symptoms of this disorder become apparent within a few days after birth and include poor feeding, vomiting, seizures, and lack of energy (lethargy) that can progress to coma; These medical problems are typically severe and can be life-threatening; In the other half of cases, the signs and symptoms of the disorder appear during childhood and may come and go over time; They are often triggered by an infection or by eating an increased amount of protein-rich foods------OMIM NIH--------------------------------<br>

ISOVALERIC ACIDEMIA; IVA ;ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY; IVD DEFICIENCY; Gene map locus 15q14-q15 <br>

isovaleric acidemia is caused by mutation in the isovaleryl CoA dehydrogenase gene (IVD); single gene locus; In the metabolic pathways, isovaleric acidemia is closely related to maple syrup urine disease; CLINICAL FEATURES: Two forms of isovaleric acidemia, possibly allelic, are recognized: the ACUTE NEONATAL FORM, (type I) leading to massive metabolic acidosis from the first days of life and rapid death and a CHRONIC INTERMITTANT FORM (Type II) in which periodic attacks of severe ketoacidosis occur with asymptomatic intervening periods; mild variants exist; <br>

--------------[NORD 2005]--------------------

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