glycogen storage disease type 1

Other consistent features are hyperuricemia, hypophosphatemia, a bleeding diathesis secondary to impairment of platelet adhesiveness, and growth retardation. The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b. Robert D. Christensen MD, in Hematology, Immunology and Infectious Disease: Neonatology Questions and Controversies (Second Edition), 2012. Type Id: deficiency in transporter that translocates free glucose molecules from microsomes into cytosol (eMedicine: Glycogen Storage Diseases Types I - VII [Accessed 27 October 2017]) Microscopic (histologic) description. Liver transplantation is an option for some patients. Lactic acidosis and ketonemia also decreases renal uric acid excretion by stimulation of uric acid reabsorption via URAT1. This buildup can affect multiple organs throughout the body. Do you have updated information on this disease? The gene causing GSD-1b is located on chromosome 11q23.25 rG-CSF can help patients avoid the recurrent bacterial infections that are otherwise a problematic part of this condition. The enzyme that resides on the anticytoplasmic side of internal membrane spaces of the hepatocyte catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate. GSD has two classes of cause: genetic and acquired. Type 1b disease also causes impaired neutrophil function and recurrent infections. There are three phenotypes of acid maltase deficiency (glycogenosis type II). Melis D (1), Pivonello R, Parenti G, Della Casa R, Salerno M, Balivo F, Piccolo P, Di Somma C, Colao A, Andria G. [2] Glycogen storage disease type 1A is caused by the deficiency of glucose-6-phosphatase (G6Pase) catalytic activity which results from mutations in the G6PC gene. Meticulous dietary control of blood glucose levels can lead to a significant clinical and metabolic improvement and prevention of complications. Radial bone mineral content (BMC) was measured using single photon absorptiometry in 11 prepubertal children, aged 3.4–12.6 years, with glycogen storage disease type 1 (GSD-1), 2 of whom were receiving granulocyte colony stimulating factor (G-CSF) therapy for chronic neutropenia. Another consequence of the impaired activity of G6Pase is the shunting of 6P through the pentose phosphate pathway, to yield ribose-6-phosphate, which ultimately yields uric acid, resulting in hyperuricemia. Patients with von Gierke disease, now known as glycogen storage disease type I, have hepatomegaly and renomegaly. Glycogen storage disease type I (GSDI, or von Gierke's disease) is caused by deficiency of glucose-6-phosphatase (G6Pase), an enzyme that catalyzes hydrolysis of glucose-6-phosphate (G6P) into glucose and inorganic phosphate (Pi), a key step in the maintenance of glucose homeostasis. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. In adolescence and adulthood, patients may develop persistent weakness and moderate loss of muscle bulk. Charles Y. Kwon, David B. Early metabolic control has been shown to effectively halt or at least slow disease progression.246 Continuous intragastric feedings are very effective; however, as the patient moves beyond infancy, this becomes rather impractical. Intercostal and diaphragmatic muscles are involved in many patients. We remove all identifying information when posting a question to protect your privacy. 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