December 2011
27
patiënts. Hepatocellular carcinoma can occur, even without alteration of AFP or CEA, possibly as a
result of liver cirrhosis. Echographic evaluation is required every 1 or 2 years and for further
investigation of abnormalities MRI scanning is preferred. Liver transplant is not necessary as long
as liver synthesis function is normal, it should be considered in advanced liver failure only.
4
Myopathy
In children symptoms are usually mild or absent. Subtle motor delay, hypotonia, mild
nonprogressive weakness, hypermobility and aberrant alignment have been described.
In adults proximal and distal weakness, exacerbated by distal neuropathy often arises, starting in
the 3
rd
or 4
th
decade.
1,2
Physical therapy for alteration in alignment, assessment of strength and
endurance and gross and fine motor testing are required, assessing the need of interventions,
orthesis, individualized exercise programs or function adaptation.
4
Cardiovascular complications
Glycogen deposition in the cardiac muscle can lead to left ventricular hypertrophy. Only a small
fraction will develop cardiomyopathy and consequently congestive heart failure. Arrhythmias can
occur although limited knowledge is available. Echographic evaluation should be performed at
diagnosis and every 1 or 2 years (and every 5 years in GSD 3b). Electrocardiography is required
every 2 years and more often in case of clinical symptoms.
Hypercholesterolemia and hypertriglyceridemia, occurring with GSD 3, are well known risk factors
for atherosclerosis. Yet there is limited data about the consequences of this hyperlipedemia in
patiënts with GSD 3.
4
Gynaecological issues
Polycystic ovaries are common in GSD 3, although this rarely generates symptoms.
Fertility is not known to be affected. Optimal metabolic control should be reached before
pregnancy. Hypoglycaemia should be avoided during pregnancy, especially considering the
increased glucose need. During and after delivery intravenous glucose administration is
mandatory.
4
Osteoporosis
Osteopenia and osteoporosis might be caused by the combination of muscle weakness in GSD 3a,
abnormal metabolic environment (acidosis) and suboptimal nutrition. Sufficient calcium and
vitamin D is essential.
3
6.1
Reference List
1.
Kishnani PS, Koeberl D, Chen YT. Glycogen Storage Disaeses. In: Valle D, Beaudet AL,
Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, editors. Scriver's Metabolic and
Molecular Bases of Inherited Disease Online.
http://www.ommbid.com
ed. New York:
McGraw-Hill; 2011.
2.
Smit GPA, Rake JP, Akman HO, DiMauro S. The Glycogen Storage Diseases and Related
Disorders. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH, editors. Inborn
Metabolic Diseases. Diagnosis and Treatment. 4th revised ed. Wurzburg, Germany: Springer;
2006. 101-119.
3.
Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. In: Pagon RA, Bird TD,
Dolan CR, Stephens K, editors. GeneReviews [internet] ed. Seattle: University of Washington;
2010.
4.
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, et al. Glycogen storage disease type
III diagnosis and management guidelines.
Genet Med.
2010;12:446-463.