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Hyperprolinemia

Definition:

Hyperprolinemia (HP) is a phenotype present in two distinct, autosomal recessive metabolic disorders caused by defects in the l-proline catabolic pathway. Hyperprolinemia type I (HPI) and type II (HPII) are caused by deficiencies in proline dehydrogenase (PRODH) and P5C dehydrogenase (P5CDH; also known as ALDH4A1), respectively. Patients with HPI may exhibit an increase in plasma proline level in absence of urinary pyrroline-5-carboxylate (P5C) while those with HPII have elevated levels of P5C and proline in plasma, urine, and cerebrospinal fluid. Some patients have neurological, renal, and/or auditory defects.

References:

[1]. Andréa G K Ferreira, et al. Experimental hyperprolinemia induces mild oxidative stress, metabolic changes, and tissue adaptation in rat liver. J Cell Biochem. 2012 Jan;113(1):174-83. [Content Brief]

[2]. Audrey Guilmatre, et al. Type I hyperprolinemia: genotype/phenotype correlations. Hum Mutat. 2010 Aug;31(8):961-5. [Content Brief]

[3]. Dhiraj Srivastava, et al. The three-dimensional structural basis of type II hyperprolinemia. J Mol Biol. 2012 Jul 13;420(3):176-89. [Content Brief]

[4]. Hélène Jacquet, et al. PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Hum Mol Genet. 2002 Sep 15;11(19):2243-9. [Content Brief]

[5]. Hiroshi Mitsubuchi, et al. Inborn errors of proline metabolism. J Nutr. 2008 Oct;138(10):2016S-2020S. [Content Brief]

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