Neonatal presentation of lethal neuromuscular glycogen storage disease type IV
نویسندگان
چکیده
منابع مشابه
Glycogen storage disease type IV, amylopectinosis.
Classification of the glycogen storage diseases according to the underlying enzyme defect has added considerably to our understanding of this group of diseases. Of the 6 types in which the biochemical abnormality has been characterized, the least common appears to be type IV, amylopectin-osis. The first case was described by Andersen in 1952, and the glycogen present in the liver and other orga...
متن کاملNon-lethal congenital hypotonia due to glycogen storage disease type IV.
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive genetic disorder due to a deficiency in the activity of the glycogen branching enzyme (GBE). A deficiency in GBE activity results in the accumulation of glycogen with fewer branching points and long, unbranched outer chains. The disorder results in a variable phenotype, including musculoskeletal, cardiac, neurological, and hepa...
متن کاملHepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease resulting from deficient glycogen-branching enzyme (GBE) activity. The classic and most common form is progressive liver cirrhosis and failure leading to either liver transplantation or death by 5 yr of age. However, the liver disease is not always progressive. In addition, a neuromuscular type of the disease has been r...
متن کاملHepatocellular carcinoma in glycogen storage disease type IV.
A 13 year old patient with juvenile type IV glycogen storage disease died of the complications of hepatocellular carcinoma. To our knowledge this is the first reported case of hepatocellular carcinoma in association with type IV glycogen storage disease.
متن کاملLiver transplantation for type IV glycogen storage disease.
T YPE IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen's diseasel or amylopectinosis) in which the activity of branching enzyme alpha-I, 4-g1ucan: alpha-I, 4-g1ucan 6-g1ucosyltransferase is deficient in the liver as well as in cultured skin fibroblasts and other tissues.2,3 This branching enzyme is responsible for creating branch points in the normal glyc...
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ژورنال
عنوان ژورنال: Journal of Perinatology
سال: 2012
ISSN: 0743-8346,1476-5543
DOI: 10.1038/jp.2011.178