Abstract

SANTOS-ANTUNES, João  and  FONTES, Rui. Type I Glycogenosis. Arq Med [online]. 2009, vol.23, n.3, pp.109-117. ISSN 2183-2447.

Type I Glycogenosis is an autossomic recessive disease characterized by a dysfunction of the glucose-6-phospha-tase complex, an endoplasmic reticulum system that is responsible for the glucose-6-phosphate hydrolysis and consequent formation of glucose in liver, kidney, and intestine. This disease has essentially two subtypes: Type Ia Glycogenosis, in which a defect in the system’s catalytic unit is present, and Type Ib Glycogenosis, which is caused by a failure of the glucose-6-phosphate transport to the lumen of the endoplasmatic reticulum where the enzymatic reaction occurs. The signs and symptoms of Type I Glycogenosis appear usually in the first year of life and include a prominent abdomen due to hepatomegaly, hypoglycemia, hyperlipidemia, hyperuricemia and hyperlactacidemia, as well as neutropenia, neutrophilic dysfunction, recurrent infections and enteritis in Type Ib Glycogenosis. Long term complications comprise hepatic adenomas and hepatocarcinoma, renal failure, gout, osteoporosis and plaquetary dysfunction. For diagnostic purposes, it is recommended DNA analysis combined with clinical and laboratory findings, and for pre-natal diagnosis amniocytes DNA study is done. Treatment is essentially aimed at avoiding metabolic changes and at reducing growth retardation and early deterioration of renal function; it consists mainly in glycemic control and can be complemented with pharmacological management. When these treatments are unsuccessful, one can consider hepatic or renal transplant.

Keywords : type I glycogenosis; glucose-6-phosphatase; hypoglycemia.

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