Glycogen storage disease type I.
Article
in English
| IMSEAR
| ID: sea-143636
ABSTRACT
Glycogen storage diseases (GSD) are inherited autosomal recessive disorder.Type-IGSD(Von Gierkes disease) is due to glucose- 6-phosphatase defect, which mainly affects liver and is life threatening if not treated. The main features are fasting hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia. Here we present a case of six month female baby who presented with fever, abdominal distension and on investigation biochemical parameters were suggestive of type-I GSD.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Humans
/
Glycogen Storage Disease Type I
/
Glucose-6-Phosphatase
/
Hyperuricemia
/
Hyperlipidemias
/
Hypoglycemia
Language:
English
Year:
2012
Type:
Article
Similar
MEDLINE
...
LILACS
LIS