The clinical manifestations of glycogen storage disease type IV (GSD IV) discussed in this entry span a continuum of different subtypes with. GSD IV GLYCOGEN BRANCHING ENZYME DEFICIENCY GBE1 DEFICIENCY ANDERSEN DISEASE BRANCHER DEFICIENCY GLYCOGENOSIS IV. Spanish Synonyms of “enfermedad por almacenamiento de glucógeno-tipo IV”: EAG tipo IV, enfermedad de Andersen, glucogenosis tipo IV.
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OMIM Entry – # – GLYCOGEN STORAGE DISEASE IV; GSD4
Widespread infiltrates of foamy histiocytes with intra-cytoplasmic deposits within the reticuloendothelial ov RES have been reported [ Magoulas et al ]. Liver transplantation is the only treatment option for individuals with the progressive hepatic subtype of GSD IV who develop liver failure.
Clinical examination usually reveals hepatomegaly.
Unfortunately, it is not free to produce. For all other comments, please send your remarks via contact us. This is the first case to be reported in the Spanish literature of type III glycogen storage disease associated with hepatocellular carcinoma.
Autopsy showed hypertrophy of the left cardiac ventricle.
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. Combined liver-kidney grafts have been performed in a few cases. Only comments written in English can be processed. J Inherit Metab Dis. Kumada S, Okaniwa M. Glycogenosis due to glucosephosphatase G6P deficiency or glycogen storage disease, GSDtype 1, is a group of inherited metabolic.
Clinical findings vary extensively both within and between families. Childhood Neuromuscular Form Guerra et al.
GBE1 is the only gene in which pathogenic variants are known to cause glycogen storage disease type IV. 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 glcuogenosis G6P transporter Glucofenosis glucogenosis G6P translocase type b.
For those with cardiomyopathy, care by a cardiologist is warranted. GeneReviews is not responsible for the information provided by other organizations.
GSD IV is inherited in an autosomal recessive manner. Liver dysfunction, myopathy, and hypotonia in childhood. The most severe form starts before birth with decrease or absence of fetal movements, arthrogryposis, hypoplastic lungs, and perinatal death.
Kumada S, Okaniwa M. Long-term prognosis for others depends on the extent, severity, and progression of the condition. Glycogen storage disease type IV, amylopectinosis.
Factors such as glycogen branching enzyme GBE activity may not be the best predictor of outcome since the level of GBE activity in different tissues can vary by disease subtype and severity. Decreased fetal movements, polyhydramnios, and fetal hydrops that may be detected prenatally; arthrogryposis, severe hypotonia, muscle atrophy at birth, early neonatal death.
Patients with congenital forms have severe hypotonia, cardiomyopathy, depressed respiration and neuronal involvement. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 81 Orphan drug s Myophosphorylase deficiency glycogenosis type V; McArdle disease. C ] – Allelic disorder to adult polyglucosan body disease Clinical manifestations of glycogen storage disease glucogsnosis III are divided into four classes: It has been postulated that alteration in the glycogen branching structure that makes it less soluble may result in a foreign body reaction that leads to the tissue injury and dysfunction observed in GSD IV [ Howell ]; however, the specific pathologic mechanisms remain unknown.
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. Although affected sibs are expected to manifest the same subtype of GSD IV, the age of onset and presentation may differ.
The diagnosis is based on biochemical findings from a liver biopsy, revealing an abnormal glycogen content, and on the evidence of enzymatic deficiency in the liver, muscle, erythrocytes, or fibroblasts, and in the trophoblast or cultured amniotic cells. Penetrance Penetrance for GSD IV is complete in those with biallelic pathogenic variants but shows extensive clinical variability between families and may show age-related progression of symptoms over time.
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The 5 other recipients were healthy and had lv liver function 16 to 73 months after transplantation. Diagnosis is based on clinical presentation, and glycemia and lactacidemia levels, after a meal hyperglycemia and glucogenosisglucogenosis after three to four glucovenosis fasting hypoglycemia and hyperlactacidemia. Null mutations and lethal congenital form of glycogen storage disease type IV. Congenital form of glycogen storage disease type IV: A new variant of type IV glycogenosis: