1.
J Pediatr
; 135(6): 775-81, 1999 Dec.
Article
in English
| MEDLINE
| ID: mdl-10586187
ABSTRACT
We describe clinical, biochemical, and molecular findings in a 2(1/2)-year-old girl with a phosphomannose isomerase deficiency who presented with severe and persistent hypoglycemia and subsequently developed protein-losing enteropathy, liver disease, and coagulopathy. Six months of therapy with mannose supplementation resulted in clinical improvement and partial correction of biochemical abnormalities.
Subject(s)
Congenital Disorders of Glycosylation/diagnosis , Hypoglycemia/etiology , Child, Preschool , Congenital Disorders of Glycosylation/diet therapy , Congenital Disorders of Glycosylation/genetics , Congenital Disorders of Glycosylation/metabolism , Dietary Supplements , Female , Humans , Hypoglycemia/metabolism , Mannose/therapeutic use , Point Mutation , Sequence Analysis, DNA
2.
J Pediatr
; 117(3): 444-5, 1990 Sep.
Article
in English
| MEDLINE
| ID: mdl-2391603