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Summary
ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY
611283
OMIM = Online Medalian Inheritance of Men
79159
11q25
very rare (10 cases)
symptoms
anemia
cardiomyopathy
no clinical signs or symptoms
laboratory finding
Isobutyrylglycine0.000.00 increasedurineno data
Butyryl/Isobutyrylcarnitine (C4) increasedblood
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
Vallat Cet al.Treatment with vigabatrin may mimic alpha-aminoadipic aciduriaEpilepsia370803-8051996
Holme ELindstedt STyrosinemia type I and NTBC (2-(2.nitro-4-trifluorormethylbenzoyl)-1-3-cyclohexadione)J Inherit Metab Dis210507-5171998