Glycogen storage disease type 1D

December 31, 2014

Overview

Glycogen storage disease type 1D: A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase (due to a defect in the microsomal glucose transporter) which results in the accumulation of glycogen in various tissues. G6P is stored as glycogen until the body needs to convert it to a sugar for energy. The enzyme deficiency prevents the conversion and hence low blood sugar levels result.

Symptoms

The list of signs and symptoms mentioned in various sources for Glycogen storage disease type 1D includes the 16 symptoms listed below: * Persistent hunger * Fatigue * Irritability * Enlarged liver * Weight loss * Slow growth rate * Low blood sugar * Lactic acidosis * Seizures * Easy bruising * Frequent nosebleeds * Increased blood lipids * Xanthomas * Increased blood uric acid level * Glycogen deposits in liver cells * Glycogen deposits in kidney cells

Causes

GSD type Id: Deficiency of T3 transposes causes GSD type Id. The gene is mapped to bands 11q23-q24. The mutated allele is inherited as an autosomal recessive trait.

Diagnosis

The phrase "signs of Glycogen storage disease type 1D" should, strictly speaking, refer only to those signs and symptoms of Glycogen storage disease type 1D that are not readily apparent to the patient. The word "symptoms of Glycogen storage disease type 1D" is the more general meaning; see symptoms of Glycogen storage disease type 1D. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Glycogen storage disease type 1D. This medical information about signs and symptoms for Glycogen storage disease type 1D has been gathered from various sources, may not be fully accurate, and may not be the full list of Glycogen storage disease type 1D signs or Glycogen storage disease type 1D symptoms. Furthermore, signs and symptoms of Glycogen storage disease type 1D may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Glycogen storage disease type 1D symptoms.