Diagnostic and therapeutic advancement of maple syrup urine disease / 临床儿科杂志
Journal of Clinical Pediatrics
;
(12): 683-686, 2013.
Article
Dans Chinois
| WPRIM
| ID: wpr-435748
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Type d'étude:
Etude diagnostique
/
Étude de dépistage
langue:
Chinois
Texte intégral:
Journal of Clinical Pediatrics
Année:
2013
Type:
Article
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