La glucogenosis tipo III es una enfermedad congénita que pertenece al grupo de las glucogenosis, trastornos en los que está alterado el metabolismo del. Request PDF on ResearchGate | Glucogenosis | Las glucogenosis son enfermedades hereditarias poco frecuentes del metabolismo del glucógeno. Se han. Somos la Primera y más Grande Comunidad de Glucogenosis Hepáticas en Latinoamérica, contamos con la base de datos más grande de pacientes y.
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Early onset forms are more severe and often fatal. Mutations in the G6PC gene 17q21 cause a deficit of the catalytic subunit G6P-alpha restricted to expression in the liver, kidney and intestine type aand mutations in the SLC37A4 gene 11q23 cause a deficit of the ubiquitously expressed G6P transporter G6PT glucgoenosis G6P translocase type b.
Nutrition therapy for hepatic glycogen storage diseases. Pre-implantatory genetic diagnosis may be discussed. Renal protection using converting enzyme inhibitors must be started should microalbuminuria be detected. Summary and related texts.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. An expanding view for the molecular basis of familial glucogenosia paralysis.
Orphanet: Glucogenosis tipo 1
Disease definition Glycogen storage disease due to acid maltase deficiency AMD is an autosomal recessive trait leading to metabolic myopathy that affects cardiac g,ucogenosis respiratory muscles in addition to skeletal muscle and other tissues. Type III glycogen storage disease is a hereditary disorder with autosomal recessive transmission. Rev Endocr Metab Disord. This is the first case to be reported in the Spanish literature of type III glycogen storage disease associated with hepatocellular carcinoma.
Additional information Further information on this disease Classification s 5 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s Kidney transplantation can be performed in case of severe renal failure.
Glucogenosis tipo III
The disease is due to a dysfunction in the G6P system, a key step in glycemia regulation. Genetic counseling Transmission is autosomal recessive. Osteoporosis may require bisphosphonates. Disease definition Glycogenosis due to glucosephosphatase G6P deficiency or glycogen storage disease, GSDtype 1, is a group of inherited metabolic diseases, including types a and b see these termsand characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.
Combined liver-kidney grafts have been performed in a few cases. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. Uric acid, triglycerides, and cholesterol serum levels are increased. Congenital form of glycogen storage disease type Gluvogenosis Severe cardiomyopathy revealing amylopectinosis.
Author links open overlay panel A. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Primary liver tumors and Pepper syndrome hepatic metastases of neuroblastoma may be evoked but easily ruled out through clinical and ultrasound data.
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Comunidad Latinoamericana de Glucogenosis Hepáticas
Antenatal diagnosis is glucogenois through molecular analysis of amniocytes or chorionic villous cells. Glycogen storage disease due to acid maltase deficiency AMD is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues.
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[Histologic diagnosis of glucogenosis type IV (amylopectinosis) (author’s transl)].
AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Other search option s Alphabetical list. Liver transplantation, performed on the basis of poor metabolic control or hepatocarcinoma, corrects hypoglycemia, but renal involvement may continue to progress and neutropenia is not always corrected in type b.
Use of liver biopsy to measure G6P activity is becoming increasingly rare. Characterization of the different types. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Late complications are hepatic adenomas and more rarely hepatocarcinoma and renal proteinuria and sometimes renal insufficiency. Specialised Social Services Eurordis directory. Goldberg T, Slonim AE. Molecular genetic testing enables confirmation of diagnosis. Prognosis With adapted management, prognosis is better: InfancyNeonatal ICD Health care resources for this disease Expert centres Diagnostic tests Patient organisations 81 Orphan drug s For all other comments, please send your remarks via contact us.
Additional information Further information on this disease Classification s 4 Gene s 2 Clinical signs and symptoms Publications in PubMed Other website s Etiology The disease is due to a dysfunction in the G6P system, a key step in glycemia regulation. Differential diagnoses include the other glycogenoses, in particular glycogenosis due to glycogen debranching enzyme deficiency GDE deficiency or GSD type III see this term but in this case, glycemia and lactacidemia are high after a meal and low in a fasting period.
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