Type Ib glycogenosis.
Indian J Pediatr
;
1997 Jul-Aug; 64(4): 557-60
Article
in English
| IMSEAR
| ID: sea-79188
ABSTRACT
Type Ib glycogenosis is a rare glycogen storage disorder resulting from a defect in the enzyme, glucose-6-phosphatase microsomal translocase. We report a case of Type Ib glycogenosis in an 18 month-old male child who presented with a history of hypoglycemic seizures and recurrent infections and had a massive hepatomegaly, recurrent hypoglycemia, hyperuricemia, hypertriglyceridemia, neutropenia and fasting lactacidemia which decreased sharply on glucose administration.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Humans
/
Male
/
Glycogen Storage Disease Type I
/
Hepatomegaly
/
Hypoglycemia
/
Infant
/
Neutropenia
Language:
English
Journal:
Indian J Pediatr
Year:
1997
Type:
Article
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