Glycogen storage disease type 1C


Glycogen storage disease type 1C: A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase (due to a defect in the microsomal phosphate) 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.


The list of signs and symptoms mentioned in various sources for Glycogen storage disease type 1C 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


GSD type Ic: Deficiency of T2 translocase causes GSD type Ic. The GSD type Ic gene is mapped to bands 11q23. The mutated allele is inherited as an autosomal recessive trait. In 1999, Janecke et al11 confirmed that GSD type Ic is allelic to GSD type Ib.