ISOVALERIC ACIDEMIA

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Disease	ISOVALERIC ACIDEMIA
Synonym	ACIDEMIA, ISOVALERIC; IVA
OMIM	243500 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	isovaleryl CoA dehydrogenase Detailed enzyme information on www.expacy.ch
Gene locus	15q14-q15
genetests.org	search search on genetest.org by MIM 243500 search search on genetest.org by ISOVALERIC+ACIDEMIA Testing - View a listing of laboratories that provide clinical testing for this disorder Research - View a listing of laboratories that provide testing on a research basis only. Resources - View and print
Summary	rare (>100 cases) autosomal recessive
Clinical symptoms	coma encephalopathy hyperammonemia hypoglycemia ketosis mental retardation metabolic acidosis neutropenia (decreased neutrophils) onset, infant onset, newborn Organic acids, urine pancreatitis respiratory distress shortened gestation time sweaty feet odor tachypnea, hyperpnea, dyspnea, respiratory distress thrombopenia, thrombocytopenia vomiting
Abnormal Findings in blood	Ammonia Normal: 25.00-80.00 µmol/l \| Significant : 60.00-2000.00 µmol/l base excess (BE) Normal: -3.00-3.00 mmol/l \| Significant : -5.00--20.00 mmol/l Isovaleryl/2-Methylbutyrylcarnitine (C5) \| Significant : - increased Ketone bodies \| Significant : - increased pCO2 Normal: 38.00-42.00 mm Hg \| Significant : 15.00-45.00 mm Hg pH Normal: 7.35-7.45 no unit \| Significant : 7.00-7.40 no unit
Abnormal Findings in plasma	Carnitine Normal: 23.00-60.00 µmol/l \| Significant : - decreased
Abnormal Findings in serum	Creatinine Normal: 27.00-88.00 µmol/l \| Significant : 90.00-329.00 µmol/l Glucose, >1 d Normal: 2.80-5.00 mmol/l \| Significant : 0.50-3.00 mmol/l
Abnormal Findings in urine	2-Methyl-cis-aconitic acid \| Significant : - increased 3-Hydroxybutyric acid Normal: 0.60-5.60 mmol/mol creatinine \| Significant : - increased 3-Hydroxyisovaleric acid Normal: 0.00-46.00 mmol/mol creatinine \| Significant : 1000.00-2000.00 mmol/mol creatinine 3-Methylmalic acid \| Significant : - increased 4-Hydroxyisovaleric acid Normal: 0.00-2.00 mmol/mol creatinine \| Significant : 20.00-300.00 mmol/mol creatinine Acetyltryptophan \| Significant : - increased Acylcarnitin \| Significant : - increased Glycine \| Significant : - increased Isovalerylasparagine \| Significant : - increased Isovalerylglycine Normal: 1.00-10.00 mmol/mol creatinine \| Significant : 2000.00-9000.00 mmol/mol creatinine Isovalerylhistidine \| Significant : - increased Isovaleryllysine \| Significant : - increased Isovaleryltryptophan \| Significant : - increased Ketone bodies \| Significant : - ++/+++ Methylfumaric acid \| Significant : - increased Methylsuccinic acid \| Significant : - increased
Treatment	amino acid mixture glycine L-carnitine low-protein diet
Picture 41	4 weeks old infant with hypotonia suffering from isovaleric aciduria
Picture 97	Tandem mass spectrum of acylcarnitines in dried blood in a patient with isovaleric acidemia
Picture 130	family with 2 affected siblings with IVA (*)
Literature	There are 14 publications available. Click here to open the relevant ISOVALERIC ACIDEMIA publications
Ramedis Case reports with long term followup	There are 7 patient data available. Click here to open the list of ISOVALERIC ACIDEMIA patients documented in Ramedis database