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Peroxisomal single enzyme/protein defect

MONDO:0100257

Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.

Also known as: peroxisomal single enzyme/protein defect

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

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Sub-types

Adrenoleukodystrophy (16) Primary hyperoxaluria type 1 (9) Adrenomyeloneuropathy (6) Adult Refsum disease (4) X-linked cerebral adrenoleukodystrophy (3) Alpha-methylacyl-CoA racemase deficiency (2) D-bifunctional protein deficiency (2) Peroxisomal acyl-CoA oxidase deficiency (2) Rhizomelic chondrodysplasia punctata (2) Acyl-CoA binding domain containing protein 5 deficiency (1) Mitchell syndrome (1) Rhizomelic chondrodysplasia punctata type 1 (1) Rhizomelic chondrodysplasia punctata type 2 (1) Rhizomelic chondrodysplasia punctata type 3 (1) Rhizomelic chondrodysplasia punctata type 5 (1) Sterol carrier protein 2 deficiency (1) Acatalasia (0) Alanine glyoxylate aminotransferase deficiency (0) Alkylglycerone-phosphate synthase deficiency (0) Bile acid CoA:amino acid N-acyltransferase deficiency (0)

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Disease of genetic or genomic mechanism (2) Peroxisomal disease (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)

Trials to join now! 17 Not yet recruiting 2 Not yet finished but already full! 7 Completed 4 Terminated 2