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Inborn disorder of proline metabolism

MONDO:0017355

An inherited metabolic disease that is has its basis in the disruption of proline metabolic process.

Also known as: disorder of proline metabolism, inborn error of proline metabolic process, inborn proline metabolic process disorder, rare inborn error of proline metabolic process

24 clinical trials for this condition and its sub-types.

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Sub-types

ALDH18A1-related de Barsy syndrome (0) Autosomal dominant complex spastic paraplegia type 9B (0) Autosomal dominant spastic paraplegia type 9 (0) Autosomal recessive complex spastic paraplegia type 9B (0) Autosomal recessive cutis laxa type 2 (0) Autosomal recessive cutis laxa type 2A (0) Autosomal recessive cutis laxa type 2B (0) Autosomal recessive cutis laxa type 2C (0) Autosomal recessive cutis laxa type 2D (0) Cutis laxa, autosomal dominant 3 (0) Hereditary spastic paraplegia 9A (0) Hyperprolinemia (0) Hyperprolinemia type 1 (0) Hyperprolinemia type 2 (0) P5CS deficiency (0) Wrinkly skin syndrome (0)

Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Inborn disorder of amino acid metabolism (4) Disease of genetic or genomic mechanism (2) Amino acid metabolism disease (0) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)
Trials to join now! 13 Not yet recruiting 3 Not yet finished but already full! 3 Completed 5
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