Maple syrup urine disease: The E1{beta} gene of human branched-chain {alpha}-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3{prime} UTR in one of the two E1{beta} mRNAs arises from intronic sequences

Journal Article · Sat Jun 01 00:00:00 EDT 1996 · American Journal of Human Genetics

OSTI ID:446951

Chuang, J L; Chuang, D T; Cox, R P ^[1]

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1. Univ. of Texas Southwestern Medical Center, Dallas, TX (United States)

Maple syrup urine disease (MSUD) or branched-chain ketoaciduria is caused by a deficiency in the mitochondrial branched-chain {alpha}-ketoacid dehydrogenase (BCKAD) complex. The clinical manifestations are characterized by accumulation of branched chain amino and {alpha}-ketoacids, which leads to severe cerebral edema with seizures, ketoacidosis, and mental retardation. The BCKAD complex comprises three catalytic components, i.e., a decarboxylase (E1) consisting of two E1{alpha} (M{sub r} = 46,000) and two E1{Beta} (M{sub r} = 37,500) subunits, a transacylase (E2) that contains 24 lipoic acid-bearing subunits, and a dehydrogenase (E3), which is a homodimeric flavoprotein. MSUD is genetically heterogeneous, since mutations in the E1{alpha} subunit (type IA MSUD), the E1{Beta} subunit (type IB), the E2 subunit (type II) and the E3 subunit (type III) have been described. The functional consequences of certain mutations in the BCKAD complex have been studied. 23 refs., 3 figs.

• OSTI ID: 446951
• Journal Information: American Journal of Human Genetics, Vol. 58, Issue 6; Other Information: PBD: Jun 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
OXIDOREDUCTASES
DNA-CLONING
DNA SEQUENCING
TRANSCRIPTION
STRUCTURE-ACTIVITY RELATIONSHIPS
GENE MUTATIONS
PATIENTS
HEREDITARY DISEASES
UROGENITAL SYSTEM DISEASES
METABOLIC DISEASES
MENTAL DISORDERS
PHENOTYPE
KETO ACIDS
METABOLISM
GENES
AMINO ACID SEQUENCE
POLYMERASE CHAIN REACTION
EXONS
INTRONS
MESSENGER-RNA