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D-Bifunctional protein deficiency is an autosomal recessive peroxisomal fatty acid oxidation disorder. Peroxisomal disorders are usually caused by a combination of peroxisomal assembly defects or by deficiencies of specific peroxisomal enzymes. The peroxisome is an organelle in the cell similar to the lysosome that functions to detoxify the cell.
Triosephosphate isomerase deficiency is a rare autosomal recessive [2] metabolic disorder which was initially described in 1965. [ 3 ] It is a unique glycolytic enzymopathy that is characterized by chronic haemolytic anaemia , cardiomyopathy , susceptibility to infections, severe neurological dysfunction, and, in most cases, death in early ...
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. [1] This may be due to defects in single enzymes [2] important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis. [3]
Autosomal dominant GTP cyclohydrolase I deficiency; Other names: Autosomal dominant Segawa syndrome (the autosomal recessive form of Segawa syndrome is caused by mutations in a different gene that encodes tyrosine hydroxylase), Dopa-responsive dystonia 5a, Autosomal dominant DYT/PARK-GCH1 (designation in accordance with the Nomenclature of Genetic Movement Disorders maintained by the ...
The lysosomal storage diseases are generally classified by the nature of the primary stored material involved, and can be broadly broken into the following: (ICD-10 codes are provided where available) [citation needed] (E75) Lipid storage disorders. Gangliosidoses (including Tay–Sachs disease (E75.0-E75.1) - they are a subtype of sphingolipidoses
Carbamoyl phosphate synthetase I deficiency has an autosomal recessive pattern of inheritance.. CPS I deficiency is inherited in an autosomal recessive manner. [1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
The form in horses is known as glycogen branching enzyme deficiency. It has been reported in American Quarter Horses and related breeds. [citation needed] The disease has been reported in the Norwegian Forest Cat, where it causes skeletal muscle, heart
Multiple sulfatase deficiency (MSD), also known as Austin disease, [1] or mucosulfatidosis, [1] is a very rare autosomal recessive [2] lysosomal storage disease [3] caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, which activates sulfatases. [4]: 502 [5] It is similar to mucopolysaccharidosis. [6]