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Article

Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

European journal of medical genetics - 1 Sept 2015

Gupta Deepti, Bijarnia-Mahay Sunita, Saxena Renu, Kohli Sudha, Dua-Puri Ratna, Verma Jyotsna, Thomas E, Shigematsu Yosuke, Yamaguchi Seiji, Deb Roumi, Verma Ishwar Chander

Abstract excerpt

Maple syrup urine disease (MSUD) is caused by mutations in genes BCKDHA, BCKDHB, DBT encoding E1α, E1β, and E2 subunits of enzyme complex, branched-chain alpha-ketoacid dehydrogenase (BCKDH). BCKDH participates in catabolism of branched-chain amino acids (BCAAs) - leucine, isoleucine and valine in the energy production pathway. Deficiency or defect in the enzyme complex causes accumulation of BCAAs and keto-acids...

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3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Computational Biology
Consanguinity
India

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Maple Syrup Urine Disease

Mutation, Missense

Prenatal Diagnosis

Source

Identifiers

PMID: 26257134
DOI: 10.1016/j.ejmg.2015.08.002

Genes

BCKDHB
DBT
BCKDHA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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