2-Methylbutyryl-Coa Dehydrogenase Deficiency (SBCADD)

Alias:

Short/branched-Chain Acyl-Coa Dehydrogenase Deficiency

2-Methylbutyryl Glycinuria

Sbcadd

Developmental Delay Due to 2-Methylbutyryl-Coa Dehydrogenase Deficiency

Deficiency of 2-Methylbutyryl-Coa Dehydrogenase

2-Methylbutyrylglycinuria

2-Methylbutyric Aciduria

Sbcad Deficiency

Short/branched Chain Acyl-Coa Dehydrogenase Deficiency

2-Methylbutyryl-Coenzyme a Dehydrogenase Deficiency

2-Mbcd Deficiency

2-Mbadd

2-Mbg

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

2-Methylbutyryl-Coa Dehydrogenase Deficiency, also known as short/branched-chain acyl-coa dehydrogenase deficiency, is related to hsd10 mitochondrial disease and microcephaly, and has symptoms including lethargy and seizures. An important gene associated with 2-Methylbutyryl-Coa Dehydrogenase Deficiency is ACADSB (Acyl-CoA Dehydrogenase Short/Branched Chain). Affiliated tissues include whole blood and neutrophil, and related phenotypes are hypotonia and motor delay

Related ID：

MALACARDS：2MT003

OMIM：610006