Open AccessSilico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease
Author(s) -
Li Wenjie,
Meng Xianze,
Wang Weiqing,
Lv Jinfeng,
Sun Yingmei,
Lv Yanan,
Wang Caijuan,
Wang Hongqin,
Wang Mei,
Song Dongpo
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1774
Subject(s) - maple syrup urine disease , lethargy , medicine , urine , coma (optics) , maple , pediatrics , leucine , biochemistry , amino acid , chemistry , physics , botany , optics , biology
Key Clinical Message Twelve days after birth, the child was admitted to hospital because of “poor response, lethargy, and poor appetite for 6 days” and developed into coma immediately. The ventilator is required. The urine had significant maple syrup odor. After different diagnosis, she was diagnosed with classical maple syrup urine disease.