title: [Hepatic glycogenosis in childhood: clinical and laboratory findings in 20 patients].
abstract: We studied 20 children with a clinical picture and laboratory study suggestive of hepatic glycogenosis. The age of the beginning of symptoms varied from birth to 24 months and the age at the diagnosis varied from 2 to 81 months. Hepatomegaly was found in all patients, diarrhea in 65% (13/26), "doll-face" in 55% (11/20) and convulsions in 50% (10/20). Nutritional evaluation showed more height deficiency than weight deficiency. Laboratory tests showed elevation of hepatic transaminases (12/19), hypercolesterolemia (8/14), hyperuricemia (6/17) and hypoglycemia (6/20). Liver function was not compromised in most of the cases. The results of glucagon tolerance test were variable. The histoenzymology study performed in 15 patients revealed the following results: Type VI (liver phosphorylase deficiency) in seven, Type I (glucose-6-phosphatase deficiency) in two, Type IV (brancher enzyme) in one and no conclusion could be drawn in five patients. The finding of hypoglycemia in few cases of this study can be justified by the few number of glycogenosis Type I, probably due to the fact that this type is the most easily diagnosed, with less necessity of referring them to specialized centers.
authors.affiliation: Departamento de Puericultura e Pediatria, Universidade de São Paulo.
authors.forename: A M
authors.initials: AM
authors.lastname: Ferreira
authors.forename: M I
authors.initials: MI
authors.lastname: Fernandes
authors.forename: L C
authors.initials: LC
authors.lastname: Galvão
authors.forename: R
authors.initials: R
authors.lastname: Sawamura
authors.forename: H A
authors.initials: HA
authors.lastname: Goldani
authors.forename: J A
authors.initials: JA
authors.lastname: de Oliveira
mesh_terms: D001827:Body Height; D001835:Body Weight; D002675:Child, Preschool; D005260:Female; D006008:Glycogen Storage Disease / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008297:Male; D009752:Nutritional Status; D012189:Retrospective Studies; D000637:Transaminases / Q000097:blood
chemical_list: D000637:Transaminases
vernacular_title: Glicogenose hepática na infância: achados clínicos e laboratoriais em 20 pacientes.