3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report.
3-Hydroxy-3-methylglutaric aciduria (3-HMG, OMIN 246450) is a rare autosomal recessive metabolic disorder caused by a deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase, a key enzyme in leucine metabolism and ketone body synthesis. Acute episodes of 3-HMG may be triggered by fasting or infection, and symptoms include vomiting, diarrhea, lethargy and hypotonia. If left untreated, prolonged hypoglycemia and metabolic acidosis may cause breathing problems, seizures, and coma. In addition, 3-HMG is associated with damage to the central nervous system, and there are several reports of white matter abnormality or cerebral atrophy. The presence of bilateral basal ganglia damage in 3-HMG has been rarely reported. Here, we present a case report of a 20-month old male with severe 3-HMG and prominent bilateral lesions in the basal ganglia.
Department of Pediatric Neurology, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.
Xiaosheng
X
Hao
Department of Pediatric Neurology, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.
Jiangtao
J
Wang
Department of Neurology, The P.R. China-Japan Union Hospital, Changchun, Jilin 130033, P.R. China.
Songyan
S
Liu
Department of Pediatric Neurology, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.
Yinbo
Y
Chen
Department of Pediatric Neurology, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.
Yan
Y
Zhang
Department of Pediatric Neurology, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.
Yunpeng
Y
Hao
3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase; bilateral basal ganglia lesion