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Inherited fatty acid metabolism disorder

MONDO:0037858

A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources.

Also known as: disorder of fatty acid metabolism, fatty acid metabolism disorder, inherited fatty acid metabolism disorder, disorder of fat oxidation, disorders of fatty-acid metabolism

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

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Sub-types

Medium chain acyl-CoA dehydrogenase deficiency (7) Carnitine-acylcarnitine translocase deficiency (3) Short chain acyl-CoA dehydrogenase deficiency (3) 3-hydroxy-3-methylglutaric aciduria (1) 3-hydroxyacyl-CoA dehydrogenase deficiency (1) Carnitine palmitoyl transferase 1A deficiency (1) Disorder of fatty acid oxidation and ketogenesis (1) Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (1) Pyruvate dehydrogenase E3 deficiency (1) Systemic primary carnitine deficiency disease (1) Very long chain acyl-CoA dehydrogenase deficiency (1) 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (0) Acyl-CoA dehydrogenase 9 deficiency (0) Acyl-CoA dehydrogenase deficiency (0) Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (0) Fatal multiple mitochondrial dysfunctions syndrome (0) Glutaric acidemia IIa (0) Glutaric acidemia IIb (0) Glutaric acidemia IIc (0) Inherited lipoic acid biosynthesis defect (0)

Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inherited lipid metabolism disorder (165) Inborn errors of metabolism (42) Human disease (14) Disease of genetic or genomic mechanism (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0) Inborn disorder of amino acid and other organic acid metabolism (0)
Trials to join now! 23 Not yet recruiting 4 Not yet finished but already full! 10 Completed 15
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