Acyl-CoA binding domain containing protein 5 deficiency
MONDO:0100112A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay.
Also known as: ACBD5 deficiency, acyl-CoA binding domain containing protein 5 deficiency
2 clinical trials for this condition and its sub-types.
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Disease
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Metabolic disease
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Inherited lipid metabolism disorder
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Hereditary disease
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Inborn errors of metabolism
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Human disease
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Disease of genetic or genomic mechanism
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Peroxisomal disease
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Disease by developmental or physiological process
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Disease by etiologic mechanism
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