Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly / 대한소아소화기영양학회지
Pediatric Gastroenterology, Hepatology & Nutrition
;
: 138-143, 2015.
Article
Dans Anglais
| WPRIM
| ID: wpr-72729
ABSTRACT
Glycogen storage disease type IX (GSD IX) is caused by a defect in phosphorylase b kinase (PhK) that results from mutations in the PHKA2, PHKB, and PHKG2 genes. Patients usually manifest recurrent ketotic hypoglycemia with growth delay, but some may present simple hepatomegaly. Although GSD IX is one of the most common causes of GSDs, its biochemical and genetic diagnosis has been problematic due to its rarity, phenotypic overlap with other types of GSDs, and genetic heterogeneities. In our report, a 22-month-old boy with GSD IX is described. No other manifestations were evident except for hepatomegaly. His growth and development also have been proceeding normally. Diagnosed was made by histologic examination, an enzyme assay, and genetic testing with known c.3210_3212del (p.Arg1070del) mutation in PHKA2 gene.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Phosphorylase kinase
/
Glycogénose
/
Dépistage génétique
/
Hétérogénéité génétique
/
Croissance et développement
/
Diagnostic
/
Dosages enzymatiques
/
Glycogène
/
Hépatomégalie
/
Hypoglycémie
Type d'étude:
Etude diagnostique
Limites du sujet:
Enfant
/
Humains
/
Bébé
/
Mâle
langue:
Anglais
Texte intégral:
Pediatric Gastroenterology, Hepatology & Nutrition
Année:
2015
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS