Progress of research on Maple syrup disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 737-741, 2019.
Article
in Zh
| WPRIM
| ID: wpr-776816
Responsible library:
WPRO
ABSTRACT
Maple syrup disease (MSUD) is a rare autosomal recessive disorder caused primarily by mutations of branched-chain keto acid dehydrogenase complex (BCKDC). BCKDC includes at least four pathogenic genes of BCKDHA, BCKDHB, DLD and DBT. The clinical manifestations of MSUD are complex, and the main symptoms at the early stage include difficulty in feeding, drowsiness, change in muscle tone and special urine flavor of maple syrup. As the disease progresses, convulsion, hypoglycemia, coma and systemic failure may occur. MSUD is easily missed or misdiagnosed during the neonatal period. This paper provides a review for recent progress made in research on MSUD including etiology, physiopathology, clinical manifestation, auxiliary examination and treatment, with a particular emphasis on genetic testing and treatment.
Full text:
1
Index:
WPRIM
Main subject:
Therapeutics
/
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
/
Diagnosis
/
Genetics
/
Maple Syrup Urine Disease
/
Mutation
Type of study:
Diagnostic_studies
Limits:
Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article