Journal of Cell Biology and Metabolism

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Journal of Cell Biology and Metabolism 44 7897 074717

Amino-acid-metabolism Open Access Journals

amino acid metabolism which is an enzyme deficiency results in the accumulation of a ninhydrin-positive amino acid or a proximal metabolite.  It  is conceptually identical to disorders caused by enzyme defects that results in the accumulation of the organic acid intermediates. The current chapter focus on clinical, biochemical, molecular, and pathological features of defects in aromatic amino acid processing that are related to neurotransmitter metabolism disorders. Disorders of glycine metabolism, defects in the processing of sulphur-containing amino acids, disorders of branched-chain amino acid metabolism, prolife metabolism, urea cycle disorders, and defects of serine synthesis. Two clinical presentations can be distinguished which manifest with recurrent attacks of rhabdomyolysis triggered by long-lasting exercise, fasting, infections, or cold. Other disorders present with permanent muscle weakness. Recurrent attacks of rhabdomyolysis occur in CPT II deficiency.

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