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Neurometabolic Disorders Associated With Disturbances of Small Molecule Metabolisma 

Neurometabolic Disorders Associated With Disturbances of Small Molecule Metabolisma
Chapter:
Neurometabolic Disorders Associated With Disturbances of Small Molecule Metabolisma
Author(s):

Deborah L. Renaud

DOI:
10.1093/med/9780190244927.003.0084
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date: 15 October 2019

Inborn errors of metabolism affect approximately 1 in 1,000 to 1 in 3,000 live births. Most of these inherited conditions are autosomal recessive, although a few are autosomal dominant or X-linked. Mitochondrial DNA disorders may be maternally inherited. The clinical symptoms associated with inborn errors of metabolism are a reflection of the effects of a disruption of normal biochemical processes required for synthesis, breakdown, or transport of metabolites. This impairment leads to accumulation of metabolites that causes toxic effects, inadequate metabolite required for normal cellular activity, or secondary disruption of essential metabolic pathways.

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