Diagnostic and therapeutic advancement of maple syrup urine disease
10.3969/j.issn.1000-3606.2013.07.022
- VernacularTitle:枫糖尿症诊治进展
- Author:
Jie LI
;
Yan LIANG
;
Xiaoping LUO
- Publication Type:Journal Article
- Keywords:
maple syrup urine disease;
neonatal screening;
diagnosis;
therapy
- From:
Journal of Clinical Pediatrics
2013;(7):683-686
- CountryChina
- Language:Chinese
-
Abstract:
Maple syrup urine disease (MSUD) is an autosomally recessively inherited disorder of branched-chain amino acid (BCAA) metabolism caused by the defective activity of branched-chainα-ketoacid dehydrogenase complex (BCKD). The disease is characterized by severe ketoacidosis, mental retardation, and neurological impairments. So far, application of tandem mass spectrom-etry and HPLC has allowed newborn screening and early detection, but some patients with variant forms of the disorder will escape detection. Liver transplantation is an effective treatment. However, the rareness of liver donation limits the liver transplantation. In this review, the screening, diagnosis and therapy of MSUD will be discussed.
