Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene.

Abstract:

BACKGROUND:Glycogen storage disease type VI (GSD-VI) presents with failure to thrive and also fibrosis in some cases, without cirrhosis. CASE CHARACTERISTICS:2½-year-old girl presented with short stature, transaminase elevation and significant fibrosis, suggesting GSD-III. OBSERVATION:A pathogenic mutation in PYGL gene suggested GSD-VI. MESSAGE:GSD-VI should be a differential diagnosis whenever GSD-III is suspected.

journal_name

Indian Pediatr

journal_title

Indian pediatrics

authors

Jagadisan B,Ranganath P

doi

10.1007/s13312-017-1174-3

subject

Has Abstract

pub_date

2017-09-15 00:00:00

pages

775-776

issue

9

eissn

0019-6061

issn

0974-7559

journal_volume

54

pub_type

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