inborn error of metabolism

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Related to storage disease: Lipid storage disease, glycogen storage disease
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Noun1.inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
metabolic disorder - a disorder or defect of metabolism
galactosemia - a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
lysinemia - an inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine; characterized by muscular weakness and mental retardation
Niemann-Pick disease - a disorder of lipid metabolism that is inherited as an autosomal recessive trait
phenylketonuria, PKU - a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency
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References in periodicals archive ?
(34.) Araoka T, Takeoka H, Abe H, Kishi S, Araki M, Nishioka K, Ikeda M, Mazaki T Ikemura S, Kondo M, Hoshina A, Nagai K, Mima A, Murakami T Mimura R, Oka K, Saito T Doi T Early diagnosis and treatment may prevent the development of complications in an adult patient with glycogen storage disease type Ia.
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.
Summary: TEHRAN (FNA)- Researchers have overcome a major challenge to treating brain diseases by engineering an experimental molecular therapy that crosses the blood-brain barrier to reverse neurological lysosomal storage disease in mice.
The early onset LAL Deficiency is also known as Wolman Disease and the late LAL Deficiency is known as Cholesteryl Ester Storage Disease.
There were also two poster presentations: (1) "Artifacts and Organism Mimickers in Pathology" by Shelvin Minas Fowler and Victor Nanales (2) "Lipid Storage Disease of the Liver" by Brigitte Visagie who gave a talk on the same subject as well.
LSD forum chairperson Dr Tawfeg Ben-Omran said: "HMC is delighted to host the first Middle East Lysosomal Storage Disease forum.
But the team wants to raise awareness of the condition, which often goes undiagnosed, and raise money for the research charity, the Association for Glycogen Storage Disease.
Glycogen storage disease: report of two cases in the city of Cartagena
Tifft, MD, PhD, FAAP, FACMG {CT}: In order to describe gangliosidoses, you really need to describe what a lysosomal storage disease is, because gangliosidoses are one of approximately 40 to 50 different lysosomal storage diseases.
Fabry disease is a lysosomal storage disease. Patients with classic Fabry disease (about 5,000 worldwide) experience such early-onset symptoms as neuropathic pain, heart disease and kidney disease.
Among the possible causes of black thyroid are minocycline-induced pigmentation, hemochromatosis, ochronosis, mucoviscidosis, ceroid storage disease, bruising, and hemorrhage.
A diagnosis of glycogen storage disease, type IV, was rendered.