3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report.

Abstract:

: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.

journal_name

Exp Ther Med

authors

Hao X,Wang J,Liu S,Chen Y,Zhang Y,Hao Y

doi

10.3892/etm.2016.3243

subject

Has Abstract

pub_date

2016-06-01 00:00:00

pages

2573-2576

issue

6

eissn

1792-0981

issn

1792-1015

pii

ETM-0-0-3243

journal_volume

11

pub_type

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