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Summary
ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY
IBDD
611283
OMIM = Online Medalian Inheritance of Men
79159
11q25
very rare
autosomal recessive
mutation in the ACAD8 gene
most patients appear clinically
asymptomatic
symptoms
anemia
cardiomyopathy
ketosis, ketoacidosis
no clinical signs or symptoms
vomiting
laboratory finding
Isobutyrylglycine0.000.00 increasedurine
Butyryl/Isobutyrylcarnitine (C4) increasedblood
Carnitine decreasedblood
Carnitine decreasedplasma
Literature
Gieselmann Vet al.Metachromatic leukodystrophy: molecular genetics and an animal modelJ Inherit Metab Dis210564-5741998
Yap Set al.Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delayJ Inherit Metab Dis210175-1761998
Vallat Cet al.Treatment with vigabatrin may mimic alpha-aminoadipic aciduriaEpilepsia370803-8051996
Harris ZLAceruloplasminemiaJ Neurol Sci2070108-1092003
Patay Z,et al.Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduriaJ Inherit Metab Dis382273-2772015
Vallat Cet al.Treatment with vigabatrin may mimic alpha-aminoadipic aciduriaEpilepsia370803-8051996
London F,Jeanjean AGliomatosis cerebri in L-2-hydroxyglutaric aciduriaActa Neurol Belg1154749-7512015
Holme ELindstedt STyrosinemia type I and NTBC (2-(2.nitro-4-trifluorormethylbenzoyl)-1-3-cyclohexadione)J Inherit Metab Dis210507-5171998
Rzem R,et al.A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repairPLoS One1032015
Yamamoto T,et al.White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduriaBrain Dev381142-1442016