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Definition of Inborn error of metabolism
1. Noun. Any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism.
Generic synonyms: Metabolic Disorder, Congenital Disease, Genetic Abnormality, Genetic Defect, Genetic Disease, Genetic Disorder, Hereditary Condition, Hereditary Disease, Inherited Disease, Inherited Disorder
Specialized synonyms: Galactosemia, Lysinemia, Niemann-pick Disease, Phenylketonuria, Pku
Specialized synonyms: Galactosemia, Lysinemia, Niemann-pick Disease, Phenylketonuria, Pku
Medical Definition of Inborn error of metabolism
1. A genetic biochemical disorder of a specific enzyme that forms a metabolic block, e.g., phenylketonuria. (05 Mar 2000)
Lexicographical Neighbors of Inborn Error Of Metabolism
| inauspicious inauspiciously inauspiciousness inauthentic inauthenticity inbeing inbeings inbent inboard inboard | inboards inborn inborn inborn errors of metabolism inborn error of metabolism (current term) inborn error of metabolism (current term) inborn lysosomal disease inborn reflex inborn reflex inbound | inbounded inbounding inbounds inbreak inbreaks inbreathe inbreathe inbreathed inbreathes inbreathing |
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