Internal Medicine

0521779407-08 CUNY1086/Karliner 0 521 77940 7 June 13, 2007 7:47

Glycogen Storage Disease 635

Glycogen Storage Disease..............................

RANDOLPH B. LINDE, MD

history & physical

History

■Inherited and uncommon enzyme deficiencies that vary by:

➣Age of presentation: from infancy to senior citizen

➣Whether defect is in synthesis or degradation of glycogen

➣Involvement of muscle, liver, or both, with or without other tis-

sues

➣Whether muscle involvement is limited to exercise intolerance

or progresses to a fatal outcome

➣Whether cardiac muscle is involved

➣Severity of liver disease, including risk of cirrhosis or cancer

➣Presence or absence of fasting hypoglycemia

Signs & Symptoms

■Vary per missing enzyme (Types 0, I–VII) and organ system involved

➣Most severe

A fatal form in infancy with cardiomegaly and hypotonia (II:

Pompe disease from lysosomal acid alpha-glucosidase defi-

ciency)

Another form can cause neuromuscular disease with neonatal

death, or fatal liver disease in childhood (IV: Andersen disease

from branching enzyme deficiency)

➣Most mild

Asymptomatic siblings of affected children have been

described (0: from glycogen synthase deficiency)

➣Most common presentations

Infant with failure to thrive, hypoglycemia as feeding time

intervals increase, and a protuberant abdomen from hep-

atomegaly (I: Von Gierke disease from glucose-6-phosphatase

deficiency)

Infant or child with growth retardation, hepatomegaly, less

prominent hypoglycemia with ketosis (III: Cori or Forbes

disease from debranching enzyme deficiency) (VI: Hers dis-

ease from liver phosphorylase deficiency) (VIa: phosphorylase

kinase deficiency)

Child with exertional muscle cramping which can be severe

with nausea, vomiting, and passage of burgundy urine from