" /> Hyperprolinemia, type II - CISMeF





Preferred Label : Hyperprolinemia, type II;

Symbol : HYRPRO2;

CISMeF acronym : HPII; HYRPRO2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 1-pyrroline-5-carboxylate dehydrogenase deficiency; HPII;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the delta-1-pyrroline-5-carboxylate dehydrogenase gene (P5CDH, 606811.0001);

Laboratory abnormalities : Hyperprolinemia (10-15 times normal); Delta-1-pyrroline-5-carboxylate (P5C) levels increased in plasma; P5C levels increased in urine; Delta-1-pyrroline-3-hydroxy-5-carboxylate levels increased in urine; Aminoaciduria; Prolinuria; Hydroxyprolinuria; Glycinuria; Delta-1-pyrroline-5-carboxylate dehydrogenase activity decreased in fibroblasts or leukocytes;

Prefixed ID : #239510;

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26/07/2025


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