3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (HIBCHD)

Disease	3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (HIBCHD)
Synonym	BETA-HYDROXYISOBUTYRYL CoA DEACYLASE DEFICIENCY; METHACRYLIC ACIDURIA
OMIM	250620 OMIM = Online Mendelian Inheritance of Men
Orphanet	88639
Protein (UniProt)	3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
ExPASy	3.1.2.4
Gene locus	2q32.2
ICD	E71.1
Summary	very rare (<1:200000) autosomal recessive mutation in the HIBCH gene Leigh-like-syndrome disorder of valine metabolism
Laboratory findings	2-Methyl-2,3-dihydroxybutyric acid inc (urine) 3-Hydroxybutyrylcarnitine (C4-OH) inc (blood) S-2-carboxypropyl-cysteamine inc (urine) S-2-carboxypropyl-cysteine inc (urine) 3-Hydroxyisovaleric acid inc (urine) 2-Hydroxyisovaleric acid inc (urine) 2-Oxoisocaproic acid inc (urine) 3-Hydroxybutyric acid inc (urine) Alanine normal/inc (urine) cysteine and cysteamine conjugates of methacrylic acid inc (urine) Ketone bodies (urine) inc (urine) L-Lactic acid inc (plasma)
Symptoms	hypoplasia of optic nerve or disk abnormalities (T) of the globus pallidus (MRI) ataxia corpus callosum, agenesis/hypoplasia developmental delay dysmorphism dystonia feeding difficulties, poor feeding hypotonia intellectual disability/intellectual developmental disorder metabolic acidosis syndactyly abnormal movement defect of walking, running, rising or climbing dysarthria EEG abnormalities [-] encephalopathy failure to thrive hypertonia, spasticity ketosis, ketoacidosis lactic acidosis Leigh syndrome microcephaly (<2 SD for age) MRI, brain, abnormalities [-] myoclonus nystagmus onset, infancy onset, neonatal psychomotor retardation seizures speech development, delayed, abnormal strabismus tetralogy of fallot vomiting