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Summary
3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY HIBCHD
METHACRYLIC ACIDURIA
250620
OMIM = Online Medalian Inheritance of Men
88639
2q32.2

very rare (9 patients)
autosomal recessive

Leigh-like-syndrome
disorder of valine metabolism

symptoms
abnormal movement
ataxia
developmental delay
dysmorphism
dystonia
failure to thrive
feeding difficulties, poor feeding
hypoplasia of optic nerve or disk
hypotonia
ketosis, ketoacidosis
lactic acidosis
metabolic acidosis
nystagmus
onset, infancy
psychomotor retardation
seizures
speech development, delayed, abnormal
strabismus
vomiting
laboratory finding
L-Lactic acid increasedblood
3-Hydroxybutyrylcarnitine (C4-OH) increasedblood
MRI, brain, abnormalities -
cysteine and cysteamine conjugates of methacrylic acid increasedurine
Literature
Houtkooper RHet al.The enigmatic role of tafazzin in cardiolipin metabolismBiochim Biophys Acta002009
Gosalakkal JAKamoji VReye syndrome and reye-like syndromePediatr Neurol393198-2002008
Sparkes RPatton D, Bernier FCardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial proteinCardiol Young172215-2172007
Pugliese ABeltramo T, Torre DReyes and Reyes-like syndromesCell Biochem Funct267741-7462008
Hastings Ret al.Dysmorphology of Barth syndromeClin Dysmorphol002009
Gosalakkal JAKamoji VReye syndrome and reye-like syndromePediatr Neurol393198-2002008
Glasgow JFReyes syndrome: the case for a causal link with aspirinDrug Saf29121111-11212006
Chang YCet al.Neonatal adrenoleukodystrophy presenting with seizure at birth: a case report and review of the literaturePediatr Neurol382137-1392008
Pugliese ABeltramo T, Torre DReyes and Reyes-like syndromesCell Biochem Funct267741-7462008
Uematsu Met al.Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiencyJ Hum Genet52121040-10432007