Visit Metagene.de!
Summary
2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY SBCADD
SHORT/BRANCHED-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY
600301
OMIM = Online Medalian Inheritance of Men
79157
10q26.13

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
very rare
autosomal recessive
symptoms
apnea
athetosis
hypoglycemia
hypothermia
hypotonia
mental retardation
metabolic acidosis
microcephaly (<2 SD for age)
motor retardation
muscle atrophy
no clinical signs or symptoms
onset, infancy
seizures
strabismus
laboratory finding
2-Methylbutyrylglycine0.000.00 increasedurineno data
MRI, brain, abnormalities -
2-Ethylhydracrylic acid0.000.00 increasedurineno data
Isovaleryl/2-Methylbutyrylcarnitine (C5) increasedblood
2-Methylbutyrylcarnitine0.000.00 increasedurineno data
D-Glucose decreasedblood
Literature
Gospe SMOlin KL, Keen CLReduced GABA synthesis in pyridoxine-dependent seizuresLancet34301133-11341994
Saenger Pet al.Congenital lipoid adrenal hyperplasia - genes for P450scc, side chain cleavage enzyme, are normalJ Steroid Biochem Mol Biol45087-971993
Ito Y et al.Molecular basis of aromatase deficiency in an adult with sexual infantilism and polycystic ovariesProc Natl Acad Sci USA90011673-771993
Peng Het al.Asymptomatic alpha-ketoadipic aciduria detected during a pilot study of neonatal urine screeningActa Paediatr888911-9141999
Baumeister FAet al.Glutamate in pyridoxine-dependent epilepsy: neurotoxic glutamate concentration in the cerebrospinal fluid and its normalization by pyridoxinePediatrics943318-3211994
Moschidou D,Human Chorionic Stem Cells: Podocyte Differentiation and Potential for the Treatment of Alport Syndrome.Stem Cells Dev255395-4042016