Inborn errors of metabolism deficiencies

In addition to the aforementioned inborn errors of metabolism, deficiencies in the catabolism of dopamine and serotonin would also be expected to result in decreased concentrations of HVA and 5HIAA (e.g. MAO deficiency and COMT deficiency). 

The physiologic relevance of this parametabolic regulation requires the identification of P5C as an extracellular molecule. Heretofore, these studies have been difficult because of the insensitivity of existing assays for P5C (49). Even in patients with Type II hyperprolinemia, an inborn error of metabolism deficient in P5C dehydrogenase (101, 102), who excrete large amounts of P5C in the urine, P5C in plasma has been undetectible with previous assay methods (85). 

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See also in sourсe #XX -- [ , , , , ]

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