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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In the progressive hepatic subtype children may appear normal at birth, but then rapidly deteriorate in the first few months of life tippo failure to thrive, hepatomegaly, and elevated liver enzymes. Failure to thrive, hepatomegaly, liver dysfunction, progressive liver cirrhosis with portal hypertension, ascites, and esophageal varices, hypotonia, and cardiomyopathy; death typically by age five years from liver failure.
Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis.
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She developed congestive heart failure and died 1 year later. Widespread infiltrates of foamy histiocytes with intra-cytoplasmic deposits within the reticuloendothelial system RES have been reported [ Magoulas et al ]. 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.
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene. J Am Diet Assoc. He developed generalized hypotonia at age 11 months; at age 3 years, he had myopathic face, muscular hypotrophy and hypotonia, and waddling gait with hyperlordosis.
Offspring of a proband. Liver dysfunction, myopathy, and hypotonia in childhood. C ] – Classic hepatic form begins in first months of life with hepatic failure and death by age 5 years [UMLS: J Inherit Metab Dis. Progressive neuronal degeneration and childhood cirrhosis Ryoikibetsu Shokogun Shirizu.
Classic progressive hepatic subtype. The following evaluations are suggested with frequency varying according to the severity of the condition:. In the less common non-progressive hepatic subtype, presentation can be in childhood with hepatomegaly, liver dysfunction, myopathy, and hypotonia. Although gluckgenosis have been recognized, the GSD IV phenotype is a continuum that ranges from mild to severe [ Burrow et al ].
Additionally the individual may need: Management and treatment Management aims at avoiding hypoglycemia frequent meals, nocturnal enteral feeding through a nasogastric tube, and later oral addition of uncooked starchacidosis restricted fructose and galactose glucogenosis, oral glucgenosis in bicarbonatehypertriglyceridemia diet, cholestyramine, statines glucogenosis, hyperuricemia glucogenosis and hepatic complications. Family planning The optimal time for determination of genetic risk, clarification of carrier status, and glucogenoss of the availability of prenatal testing is before pregnancy.
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Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency type IV glycogenosis. Individuals with the classic hepatic subtype tend to be compound heterozygotes for a null and a missense variant. Long-term prognosis for others depends on the extent, severity, and progression of the condition. Kidney transplantation can be performed in case of glucogenosis renal failure. The hepatic subtypethe most common presentation of GSD IV, can be classified as progressive classic or non-progressive.
Moses SW, Parvari R. The GBE protein contains two highly conserved domains at the N- and C-terminals with sequences similar to isoamylase glycoside hydrolase and alpha-amylase, respectively. Evaluation of Relatives at Risk If the GBE1 pathogenic variants have been identified in an affected family member, at-risk relatives can be tested so that those with the pathogenic variants can be evaluated for involvement of the liver, skeletal muscle, and heart to allow early diagnosis and management of disease manifestations.
Early glucogenosis forms are more severe and glucogenosis fatal. Carrier testing for at-risk family members is possible if the pathogenic variants in the family have been identified.
Glycogen Storage Disease Type IV – GeneReviews® – NCBI Bookshelf
Clinical examination usually reveals hepatomegaly. Of 37 affected individuals, 28 had biallelic pathogenic variants and six had one identifiable pathogenic variantimplying that the second causative variant was not identified. Detailed information Article for general public Svenska Management should involve a multidisciplinary team including specialists in hepatology, neurology, nutrition, medical or biochemical genetics, and child development.
Neuromuscular forms of glycogen branching enzyme deficiency. Fetal type IV glycogen storage disease: GSD IV can manifest as several different subtypes, with variable ages of onset, severity, and clinical features, including the following:. Diagnostic methods 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.
An expanding view for the molecular basis of familial periodic paralysis.
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation. To establish the extent of disease and needs of an individual diagnosed with glycogen storage disease type IV GSD IVthe following evaluations are recommended:. Of the 40 pathogenic variants identified, 29 are within the catalytic domain of the enzyme.
Genetic counseling Transmission is autosomal recessive.
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The diagnosis is suspected based on the clinical presentation and the finding of abnormally branched glycogen accumulation in muscle or liver tissue. Get Access Get Access. Carrier testing for at-risk family members and prenatal and prenatal diagnosis for pregnancies at increased risk are possible based on molecular testing if the pathogenic variants in the glucoggenosis have been identified. If the pathogenic variants have not been identified, glycogen branching enzyme GBE testing on cultured amniocytes can be performed for prenatal diagnosis.