3-HYDROXYISOBUTYRIC ACIDURIA (HIBADH)

Question 1

What is  3-HYDROXYISOBUTYRIC ACIDURIA (HIBADH)?

Accepted Answer

rare (13 cases)
autosomal recessive
Mutation analysis in the ALDH6A1 gene can reveal a cause of 3-hydroxyisobutyric aciduria [Sass JO 2012]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

3-Hydroxy-Isobuttersäure-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 236795

Question 4

Which enzymes are involved?

Accepted Answer

3-hydroxyisobutyrate dehydrogenase

Disease	3-HYDROXYISOBUTYRIC ACIDURIA (HIBADH)
Synonym	3-HYDROXYISOBUTYRIC ACIDURIA;
OMIM	236795 OMIM = Online Mendelian Inheritance of Men
Orphanet	939
ExPASy	1.1.1.31
Gene locus	unknown
ICD	E71.1
Summary	rare (13 cases) autosomal recessive Mutation analysis in the ALDH6A1 gene can reveal a cause of 3-hydroxyisobutyric aciduria [Sass JO 2012]
Laboratory findings	3-Hydroxyisobutyric acid inc (urine) L-Lactic acid inc (blood) 2-Hydroxyisovaleric acid inc (urine) 3-Hydroxyisovaleric acid inc (urine) Ketone bodies (urine) inc (urine) 2-Ethylhydracrylic acid inc (urine) 3-Hydroxyisovalerylcarnitine (C5-OH) inc (blood) 3-Hydroxypropionic acid inc (urine) L-Carnitine dec (plasma) L-Lactic acid inc (urine)
Symptoms	ketosis, ketoacidosis MRI, brain, white matter abnormalities [-] cerebral calcifications clinodactyly developmental delay dysmorphism failure to thrive metabolic acidosis microcephaly (<2 SD for age) white matter changes, abnormalities dehydration early death encephalopathy hypotonia lactic acidosis MRI, brain, abnormalities [-] onset, childhood onset, infancy onset, neonatal Organic acids, urine respiratory insufficiency vomiting