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]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.