Las glucogenosis son enfermedades hereditarias del metabolismo del glucógeno. Se reconocen más de 12 tipos y afectan principalmente al hígado y al músculo, by Glycogen storage disease 1b: Speculation on the role of autoimmunity. Tratamiento continuo con factores estimulantes de colonias (G-CSF) de la neutropenia asociada a la glucogenosis tipo IbTreatment with granulocyte colony . A glycogen storage disease (GSD) is the result of an enzyme defect. These enzymes normally catalyze reactions that ultimately convert.

Author: Zulujind Nasho
Country: Benin
Language: English (Spanish)
Genre: Health and Food
Published (Last): 26 June 2015
Pages: 237
PDF File Size: 2.60 Mb
ePub File Size: 1.65 Mb
ISBN: 272-1-77897-529-7
Downloads: 84581
Price: Free* [*Free Regsitration Required]
Uploader: Kirisar

The development of new therapies for GSDI has focused on correcting the primary cause of these disorders and avoiding long-term complications.

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.

More detailed information for clinicians ordering genetic tests can be found here.

Neutropenia and impaired neutrophil function. It may cause clinically significant bleeding, especially epistaxis. Metabolic control should be followed closely throughout the pregnancy.

Calcium nephrolithiasis and distal tubular acidosis in type 1 glycogen storage disease. Impaired platelet function can lead to a bleeding tendency with frequent epistaxis. 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.


However, transgene expression decreased over time, indicating that repeated administration may be necessary for long-term treatment in humans. Management aims at avoiding hypoglycemia frequent meals, nocturnal enteral feeding through a nasogastric tube, glucogenossis later oral addition of uncooked starchacidosis restricted fructose and galactose intake, oral supplementation in bicarbonatehypertriglyceridemia diet, cholestyramine, statineshyperuricemia allopurinol and hepatic complications.

Sudden death from hypoglycemia has occurred due to malfunction or disconnection, and periodic cornstarch feedings are now preferred to continuous infusion.

There was a problem providing the content you requested

Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. Some small deletions, splicing variants, and one large deletion have also been found [ Janecke et alQiu et al ] see Table 3. Lactic acidosis arises from impairment of gluconeogenesis. Hyperuricemia results from a combination of increased generation and decreased excretion of uric acidwhich is generated when increased amounts of G6P are metabolized via the pentose phosphate pathway.

Although elemental formulas are available for infants, many foods contain fructose or galactose in the forms of sucrose or lactose. Seydewitz Glucogeenosis, Matern D. Most affected individuals live into adulthood.

Goldman’s Cecil Medicine 24th ed. In affected individuals who are 16 years and older, liver computed tomography CT or magnetic resonance imaging MRI scanning using intravenous contrast should be done every six to 12 months to monitor for hepatic adenoma formation [ Franco et al ].

Glycogen storage disease type I – Wikipedia

The frequency of multi exon deletions is unknown; very few have been reported in either of these genes [ Blucogenosis et alWang et al ].


Edgar von Gierke, who first described the disease in Immobilisation of fats results in an increase in Fatty Acids and ketone bodies. By using this site, you agree to the Terms of Use and Privacy Policy. Systemic blood pressure measurements should be obtained at all clinic visits beginning in infancy. Human granulocyte colony-stimulating factor G-CSF can be used to treat recurrent infections:.

In fact the effect is amplified because the resulting high levels of glucosephosphate inhibit earlier key steps in both glycogenolysis and gluconeogenesis.

Glycogen Storage Disease Type I – GeneReviews® – NCBI Bookshelf

Pregnancy in glycogen storage disease type Ib: Amylase is required to digest cornstarch and may not be present until age two years. Primary liver tumors and Pepper syndrome hepatic metastases of neuroblastoma may be evoked but easily ruled out through clinical and ultrasound data. Follow GSDI guidelines published recently through a group of experts in the field [ Kishnani et al ]. Treatment includes care by a metabolic team familiar with the medical issues associated with long-term management of persons with GSD.

Although hyperuricemia is present in young affected children, gout rarely develops in untreated children before puberty [ Matern et al ].

Epub May