10 Questions
What is the primary goal of treatment for GSD 0 patients?
Preventing hypoglycemia
Where is the gene that encodes GS located?
Chromosome 12p12.2
What is a common misdiagnosis for patients with GSD 0?
Diabetes mellitus
How is GSD 0 typically diagnosed?
Through a combination of liver biopsy and DNA analysis
What is the enzyme deficiency associated with GSD Type III?
Debranching Enzyme
What is a characteristic symptom of GSD Type IV?
Growth delay in childhood
What is the recommended treatment for GSD Type I?
Cornstarch taken orally
Which type of GSD is associated with hyperlipidemia?
GSD Type VI
What is the main goal of dietary changes in GSD 0 treatment?
Preventing hypoglycemia
How often should patients with GSD Type VI be fed?
Frequently to avoid hypoglycemia
Study Notes
Inherited Disorders of Carbohydrate Metabolism
Disorders of Glycolysis
- Pyruvate kinase deficiency: an autosomal recessive disorder, most common red cell enzymopathy, and the most common enzyme defect in the glycolytic pathway.
- Inadequate ATP generation leads to premature red blood cell death, and almost all individuals with PK deficiency have a mutant enzyme.
- 90% of energy in RBC comes from glycolysis, and ATP is needed for maintenance of membrane structure.
Glycogen Storage Diseases
Type I GSD (GSD Ia and Ib)
- Autosomal recessive disorders, characterized by inability to release glucose from glycogen.
- Liver cells accumulate glycogen, causing hepatomegaly.
- Clinical presentation: enlarged liver, low blood sugar, high levels of lactate, fats, and uric acid in the blood, impaired growth and delayed puberty.
- Prevention: initial glucose via a nasogastric tube, and glycogen debrancher enzyme.
Type III GSD (GSD III)
- Autosomal recessive disorder, characterized by a deficiency of glycogen debrancher enzyme (GDE).
- Clinical presentation: swollen abdomen, low blood sugars on fasting, growth delayed during childhood, and secondary symptoms: muscle weakness.
- Prevention: dietary treatment to prevent hypoglycemia and correction of hyperlipidemia, and protein supplements for muscle disorder.
Type IV GSD (Andersen Disease)
- Autosomal recessive disorder, characterized by a deficiency of glycogen branching enzyme (GBE).
- Clinical presentation: progressive liver disease, growth delay in childhood, enlarged liver, and may affect muscles and heart in late-onset type.
- Prevention: no treatment apart from liver transplantation has been found to prevent progression of the disease.
Type VI GSD (Hers Disease)
- Autosomal recessive disorder, characterized by a deficiency of the liver glycogen phosphorylase enzyme.
- Clinical presentation: hepatomegaly, hypoglycaemia, growth retardation, and hyperlipidaemia.
- Prevention: symptomatic treatment consists of preventing hypoglycemia with a high-carbohydrate diet, frequent feedings, and late evening meals in young patients.
Test your knowledge of inherited disorders related to carbohydrate metabolism including disorders of glycolysis, glycogen storage diseases, galactose metabolism, fructose metabolism, and lactose metabolism. This quiz covers conditions such as pyruvate kinase deficiency, pyruvate dehydrogenase deficiency, and glucose 6 phosphate dehydrogenase deficiency.
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