Four disorders of proline metabolism are known: two in its catabolism (hyperprolinaemia type I, which is due to proline oxidase deficiency, and hyperprolinaemia type II, which is due to ∆-pyrroline 5-carboxylate dehydrogenase deficiency) and two in its synthesis (∆1-pyrroline 5-carboxylate synthase deficiency and ∆-pyrroline 5-carboxylate reductase deficiency). Hyperprolinaemia type I is generally considered a nondisease, while hyperprolinaemia type II appears to be associated with a disposition to recurrent seizures. The deficiency of the proline-synthesising enzyme, ∆-pyrroline 5-carboxylate synthase, which is also involved in ornithine synthesis, is described in Chapter 22.
CITATION STYLE
Jaeken, J. (2012). Disorders of proline and serine metabolism. In Inborn Metabolic Diseases: Diagnosis and Treatment (pp. 357–362). Springer Berlin Heidelberg. https://doi.org/10.1007/978-3-642-15720-2_25
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