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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However, the experience of Selby et al.

Orphanet: Glucogenosis tipo 4

Risk to Family Members Parents of a proband The parents of an affected child are obligate heterozygotes i. In 3 Turkish male sibs suffering from chronic progressive myopathy, Reusche et al. Note on variant classification: CCCC ].

Tests in GTR by Gene. Nervous system involvement in type IV glycogenosis. Adult polyglucosan body disease: Clinical presentation is extremely heterogeneous and involves the liver or the neuromuscular system.

Liver dysfunction, myopathy, and hypotonia in childhood. Glycogenosis type IV branching enzyme deficiency, amylopectinosis, Andersen disease, polyglucosan body disease Ryoikibetsu Shokogun Shirizu. Of the 40 GBE1 pathogenic variants, 16 are missensesix nonsensefive splice-site, seven frameshift, and glucogenossis exon or multiexon deletions [ Li et alMagoulas et al ].

Decreased fetal movements, polyhydramnios, and fetal hydrops that may be detected prenatally; arthrogryposis, severe hypotonia, muscle atrophy at birth, early neonatal death. They also reported a striking reduction in lymph node deposits of glucocerebrosidase in patients with Gaucher disease after uv.


National Center for Biotechnology InformationU. It is appropriate to offer genetic counseling including discussion of potential risks to offspring and reproductive options to young adults who are affectedare carriers, or are at risk of being carriers.


Congenital alactasia Sucrose intolerance. Two of the 7 died 7 and 36 days after liver transplantation, from bowel perforation and thrombosis of the hepatic artery, respectively. Clinical glucogenpsis The disease may if at birth by hepatomegaly or, more commonly, between the ages of three to four months by symptoms of fast-induced hypoglycemia.

Successive liver biopsies showed hepatocellular periodic-acid Schiff-positive diastase-resistant inclusions and hepatic fibrosis that was nonprogressive over 3 years. Endomyocardial biopsy showed abundant PAS-positive, diastase-resistant cytoplasmic deposits that were also seen in muscle, skin, and liver specimens. She died on the fourth day of life. Death usually occurs in the neonatal period. Glycogen storage disease type IV: Null mutations and lethal congenital forms of glycogen storage disease type IV.

Tipo IV – Asociación Española de Enfermos de Glucogenosis (AEEG)

Prevention of Secondary Complications Nutritional deficiencies e. Renal protection using converting enzyme inhibitors must be started should microalbuminuria be detected. Clear Turn Off Turn On.


University of Washington, Seattle; Glycogen storage disease IV. Transient expression experiments showed that these gljcogenosis inactivated glycogen branching enzyme activity. Electron microscopy may demonstrate fine fibrillary aggregates of electron-dense amylopectin-like material within the cytoplasm of hepatocytes.

The following evaluations are suggested with frequency varying according to the severity of the condition:. Chronic, progressive myopathy, with dilated cardiomyopathy in some. Surveillance No clinical guidelines for surveillance are available. Author links open overlay panel A.

Grow and Glow in Life you wanna grow? A new variant of type IV glycogenosis: Symptoms began at age 29 years with progressive difficulty walking up stairs. Analysis of glycogen branching enzyme GBE activity alone is not sufficient to determine carrier status since enzyme activity in carriers may be within the normal range. Management and treatment There is no specific treatment. J Inherit Metab Dis.

Rev Endocr Metab Disord. Differential diagnoses for the childhood neuromuscular subtype of GSD IV include muscular dystrophies e.