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Summary
2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY (SBCADD)
SHORT/BRANCHED-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY
610006
OMIM = Online Medalian Inheritance of Men
79157
10q26.13
very rare
autosomal recessive
symptoms
apnea
athetosis
behavior, autism or autistic-like
hypoglycemia
hypothermia
hypotonia
mental retardation
metabolic acidosis
microcephaly (<2 SD for age)
motor retardation
muscle atrophy
neutropenia (decreased neutrophils)
no consistent clinical signs or symptoms
onset, infancy
seizures
strabismus
laboratory finding
Isobutyrylglycine2.00200.00 mmol/mol creatinineurine
MRI, brain, abnormalities -
2-Ethylhydracrylic acid0.000.00 mmol/mol creatinineurine
2-Methylbutyrylcarnitine +€mol/lblood
Isovalerylcarnitine (C5) -Ámol/lblood
2-Methylbutyrylcarnitine0.000.00 mmol/mol creatinineurine
D-Glucose1.004.00 mmol/lserum
2-Methylbutyrylglycine mmol/mol creatinineurine
Literature
Bas F,et al.Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter studyEndocrine492479-4912015
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
Raffler J,et al.Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic IndividualityPLoS Genet119e10054872015
Ito Y et al.Molecular basis of aromatase deficiency in an adult with sexual infantilism and polycystic ovariesProc Natl Acad Sci USA90011673-771993
Ankar A,Bhimji SSVitamin, B12 (Cobalamin), DeficiencyStatPearls Internet002017
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
Sobrier ML,et al.Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHDHum Mol Genet253472-7832016
Moschidou D,Human Chorionic Stem Cells: Podocyte Differentiation and Potential for the Treatment of Alport Syndrome.Stem Cells Dev255395-4042016
Bas F,et al.Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter studyEndocrine492479-4912015