Metabolic diseases can have severe consequences unless diagnosed and treated as soon as possible. Genetic testing permits the earliest possible detection and treatment of affected individuals, even in newborns, and can prevent morbidity, mortality, and disabilities associated with inherited metabolic disorders.
Articles on metabolism
Sandhoff disease is a rare inherited lysosomal storage disorder caused by an accumulation of the specific glycosphinogolipid, GM2 ganglioside1, particularly in neurons. This accumulation results in a progressive neurodegenerative disorder clinically indistinguishable from Tay-Sachs disease. Because…
Pompe disease, also known as glycogen storage disease type 2 (GSD II), is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.
Childhood cerebral X-linked adrenoleukodystrophy with atypical neuroimaging abnormalities and a novel mutation
Childhood cerebral X-linked adrenoleukodystrophy (XALD) typically manifests with symptoms of adrenocortical insufficiency and a variety of neurocognitive and behavioral abnormalities.
Mucopolysaccharidosis type II (also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycans (GAG) accumulation and caused by lack of the enzyme iduronate sulfatase, encoded by the IDS gene.
MPS I has been divided into three broad groups based on severity of symptoms: Hurler, Hurler-Scheie, and Scheie syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively; and the Hurler-Scheie syndrome is intermediate in…