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

21 clinical trials for this condition and its sub-types, 7 tagged with Inherited fatty acid metabolism disorder itself.

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Where it sits in the disease tree

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Part of

↑ Inherited lipid metabolism disorder (644) ↑ Inborn disorder of amino acid and other organic acid metabolism (225)

Sub-types of Inherited fatty acid metabolism disorder

Disorder of fatty acid oxidation and ketogenesis 1 trial · 16 incl. sub-types
10 sub-types
- Acyl-CoA dehydrogenase deficiency 0 trials · 12 incl. sub-types Sub-types →
- Carnitine-acylcarnitine translocase deficiency 3 trials
- 3-hydroxy-3-methylglutaric aciduria 1 trial
- 3-hydroxyacyl-CoA dehydrogenase deficiency 1 trial
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 trial
- Systemic primary carnitine deficiency disease 1 trial
- Very long chain acyl-CoA dehydrogenase deficiency 1 trial
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 trials
- Acyl-CoA dehydrogenase 9 deficiency 0 trials
- Long chain acyl-CoA dehydrogenase deficiency 0 trials
Carnitine palmitoyl transferase 1A deficiency 1 trial
Inherited lipoic acid biosynthesis defect 0 trials · 1 incl. sub-types
6 sub-types
- Pyruvate dehydrogenase E3 deficiency 1 trial
- Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0 trials
- Fatal multiple mitochondrial dysfunctions syndrome 0 trials Sub-types →
- Lipoic acid synthetase deficiency 0 trials
- Lipoyl transferase 1 deficiency 0 trials
- Spasticity-ataxia-gait anomalies syndrome 0 trials

Most studied deeper sub-types

Medium chain acyl-CoA dehydrogenase deficiency (7) Short chain acyl-CoA dehydrogenase deficiency (4) Multiple acyl-CoA dehydrogenase deficiency (1) Glutaric acidemia IIa (0) Glutaric acidemia IIb (0) Glutaric acidemia IIc (0) Multiple acyl-CoA dehydrogenase deficiency, mild type (0) Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type (0) Multiple mitochondrial dysfunctions syndrome 1 (0) Multiple mitochondrial dysfunctions syndrome 10 (0) Multiple mitochondrial dysfunctions syndrome 2 (0) Multiple mitochondrial dysfunctions syndrome 3 (0) Multiple mitochondrial dysfunctions syndrome 4 (0) Multiple mitochondrial dysfunctions syndrome 5 (0) Multiple mitochondrial dysfunctions syndrome 6 (0) Multiple mitochondrial dysfunctions syndrome 7 (0) Multiple mitochondrial dysfunctions syndrome 9b (0) Transient neonatal multiple acyl-CoA dehydrogenase deficiency (0)

Including sub-types (21) Tagged with Inherited fatty acid metabolism disorder (7)

Trials to join now! 2 Not yet recruiting 1 Not yet finished but already full! 3 Completed 1

Inherited fatty acid metabolism disorder

Where it sits in the disease tree

Most studied deeper sub-types

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