Maple syrup urine disease type 1A(MSUD1A)

MedGen UID:: 443950
•Concept ID:: C2930989
•: Disease or Syndrome

Synonyms:	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IA; MAPLE SYRUP URINE DISEASE, TYPE IA; MSUD type 1A; MSUD1A

Monarch Initiative:	MONDO:0023691

Definition

A maple syrup urine disease caused by mutations in BCKDHA. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Inborn genetic diseases
  - Inborn errors of metabolism
    - Brain Diseases, Metabolic, Inborn
      - Maple syrup urine disease
        Maple syrup urine disease type 1A

Recent clinical studies

Diagnosis

Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.

Li X, Ding Y, Liu Y, Ma Y, Song J, Wang Q, Li M, Qin Y, Yang Y
Eur J Med Genet 2015 Nov;58(11):617-23. Epub 2015 Oct 8 doi: 10.1016/j.ejmg.2015.10.002. PMID: 26453840

See all (1)

Prognosis

Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease.

Ali EZ, Yunus ZM, Desa NM, Hock NL
J Pediatr Endocrinol Metab 2013;26(9-10):975-80. doi: 10.1515/jpem-2012-0424. PMID: 23729548

See all (1)

Clinical prediction guides

Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.

Li X, Ding Y, Liu Y, Ma Y, Song J, Wang Q, Li M, Qin Y, Yang Y
Eur J Med Genet 2015 Nov;58(11):617-23. Epub 2015 Oct 8 doi: 10.1016/j.ejmg.2015.10.002. PMID: 26453840

Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease.

Ali EZ, Yunus ZM, Desa NM, Hock NL
J Pediatr Endocrinol Metab 2013;26(9-10):975-80. doi: 10.1515/jpem-2012-0424. PMID: 23729548

See all (2)

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Maple syrup urine disease type 1A(MSUD1A)

Definition

Term Hierarchy

Recent clinical studies

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Consumer resources

Reviews

Related information

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