inborn error of metabolism

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Related to storage disease: Lipid storage disease, glycogen storage disease
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Pompe disease (glycogen storage disease Type II, acid maltase deficiency, and OMIM #232300) is a rare, progressive, autosomal recessive metabolic disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA).
MPS IIIA is a profound and deadly lysosomal storage disease with no approved treatments available.
Examples of metabolic diseases with hepatic presentation are tyrosinemia, Wilson's disease, progressive familial intrahepatic cholestasis (PFIC), Aagenaes syndrome, glycogen storage disease, non-alcoholic steatohepatitis (NASH)12-14.
Leslie, Glycogen Storage Disease Type II(Pompe Disease), in GeneReviews, R.
Glycogen storage disease type Ilia is an inherited metabolic disorder that interferes with the body's ability to release sugar from glycogen for energy, reads a press statement from the University of Manitoba.
Glycogen storage disease (GSD) type 3 is an inborn error of glycogen metabolism resulting from the deficient activity of glycogen debranching enzyme.
Abstract Neutral lipid storage disease is a rare autosomal recessive disorder characterized by non-bullous ichthyosiform erythroderma liver steatosis hepatosplenomegaly cataracts ataxia bilateral sensorineural hearing loss skeletal and cardiomyopathy growth and mental retardation.
Interestingly, this gene is also mutated in a hereditary liver disease called glycogen storage disease 3 (GSDIII).
It is known by several names: acid maltase deficiency; glycogen storage disease type II; and glycogenosis type II.
Glycogen structure and enzyme deficiencies in glycogen storage disease.
protect host neurons by providing a missing enzyme in models of lysosomal storage disease,
Glycogen storage disease type 1 (GDH 1) is a metabolic disease which occurs as a result of dysfunction in glucose 6 phosphatase (G6Paz) system.
In conclusion, although CDS is a rare lipid storage disease, it should always be a consideration in patients with congenital ichthyosis, especially those with extracutaneous symptoms or signs.