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Disease	3-HYDROXYISOBUTYRIC ACIDURIA
Synonym	3-HYDROXYISOBUTYRIC ACIDURIA;
OMIM	236795 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	3-hydroxyisobutyrate dehydrogenase Detailed enzyme information on www.expacy.ch
Gene locus	unknown
genetests.org	search search on genetest.org by MIM 236795
Summary	rare autosomal recessive
Clinical symptoms	clinodactyly dehydration dysmorphism early death failure to thrive hypotonia ketosis lactic acidosis metabolic acidosis microcephaly Organic acids, urine respiratory insufficiency vomiting
Abnormal Findings in blood	3-Hydroxyisovalerylcarnitine (C5-OH) \| Significant : - increased Lactate Normal: 0.90-1.80 mmol/l \| Significant : - increased
Abnormal Findings in plasma	Carnitine, free Normal: 20.00-40.00 µmol/l \| Significant : - decreased
Abnormal Findings in urine	2-Ethylhydracrilic acid Normal: 0.00-20.00 mmol/mol creatinine \| Significant : - increased 3-Hydroxyisobutyric acid Normal: 2.00-33.00 mmol/mol creatinine \| Significant : 60.00-390.00 mmol/mol creatinine 3-Hydroxyisovaleric acid Normal: 0.00-46.00 mmol/mol creatinine \| Significant : - increased 3-Hydroxypropionic acid Normal: 3.00-10.00 mmol/mol creatinine \| Significant : - increased Ketone bodies \| Significant : - +/++ Lactate Normal: 40.20-325.60 mmol/mol creatinine \| Significant : - increased
Treatment	L-carnitine low-protein diet
Literature	There are 8 publications available. Click here to open the relevant 3-HYDROXYISOBUTYRIC ACIDURIA publications
Ramedis Case reports with long term followup	There are 2 patient data available. Click here to open the list of 3-HYDROXYISOBUTYRIC ACIDURIA patients documented in Ramedis database