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 gluc├│geno-tipo IV”: EAG tipo IV, enfermedad de Andersen, glucogenosis tipo IV.

Author: Dashakar Kazrazuru
Country: Republic of Macedonia
Language: English (Spanish)
Genre: Travel
Published (Last): 9 July 2012
Pages: 465
PDF File Size: 14.12 Mb
ePub File Size: 4.55 Mb
ISBN: 552-2-23161-747-8
Downloads: 72285
Price: Free* [*Free Regsitration Required]
Uploader: Zulkizahn

If the GBE1 pathogenic variants have been identified in an affected family member, at-risk relatives can be tested so that those glucoenosis the pathogenic variants can be evaluated for involvement of the liver, skeletal muscle, and heart to allow early diagnosis and management of disease manifestations.

Death usually occurs in the neonatal period.


Continuing lessons from glycogen storage diseases. Author links open overlay panel A. Li et al [] recently reported two unrelated infants with this subtype gluucogenosis GSD IV who were also small for gestational age. See Table 3 pdf for a complete list of GBE1 pathogenic variants identified to date.

Glucogenosis have enlarged liver, growth retardation, osteopenia, sometimes osteoporosis, full-cheeked round face, nephromegaly and frequent epistaxis due to platelet dysfunction.

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.


Differential diagnosis Differential diagnoses include the other glycogenoses, in particular glycogenosis due to glycogen debranching enzyme glucogenosis GDE deficiency or GSD type III see this term but in glucogenosis case, glycemia and lactacidemia are high after a gluckgenosis and low in glucogenosis fasting period. glucogenosiw

Liver transplantation is the only treatment option for individuals with the progressive hepatic subtype of GSD IV who develop liver failure.

Without glycogen debranching enzymes to glucogenosis convert these branched glycogen polymers to glucose, limit glucogenosis abnormally accumulates in the cytoplasm. 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, uv in the trophoblast or cultured amniotic cells.


Glycogen storage disease type IV, amylopectinosis. Biopsy, Elevated transaminases [2]. For a detailed summary of gene and protein information, glucogenozis Table AGene.

Of 37 affected individuals, 28 had biallelic pathogenic variants and six had one identifiable pathogenic variantimplying that the second causative variant was not identified. See Quick Reference for an explanation of nomenclature.

GBE deficiency results in storage of abnormal glycogen that resembles an amylopectin-like structure polyglucosan. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members.

Clinical and genetic heterogeneity of branching enzyme deficiency glycogenosis type IV. The variable presentations of glycogen storage disease type IV: Specialised Social Services Eurordis directory. Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast.

Liver enzymes are usually abnormal in childhood at the time of presentation, glucgoenosis subsequently may return to and remain normal [ McConkie-Rosell et al ]. For all other comments, please send your remarks via contact us. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that i credit for source http: Selecting appropriate candidates for liver transplantation can be complex.


Glycogenosis type IV branching enzyme deficiency, amylopectinosis, Andersen disease, polyglucosan body disease Ryoikibetsu Shokogun Shirizu.

In general, hepatocytes are markedly enlarged and contain periodic acid-Schiff PAS -positive glhcogenosis diastase-resistant inclusions, features characteristic of the abnormally branched glycogen found in GSD IV. 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. GeneReviews Advanced Search Help. CC ]. For information on selection criteria, click here.

Glycogen Storage Disease Type IV – GeneReviews┬« – NCBI Bookshelf

Get Access Get Access. There is no specific treatment. Branching enzyme in erythrocytes: Glucogenksis is no glucogenosis response to glucagon. Other search option s Alphabetical list. Both pregnancies were complicated by polyhydramnios and reduced fetal movements.

Classic progressive hepatic subtype. The variable presentations of glycogen storage disease type IV: See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.