Mitochondrial disorders

3-Methylglutaconic aciduria

Aconitase deficiency

Alpha-keto acid dehydrogenase

Anemia

Barth syndrome

Brody myopathy

Cardioencephalomyopathy due to cytochrome c oxidase deficiency

Cerebral creatine deficiency syndrome

Charcot-Marie-Tooth disease

Citrate synthase deficiency

Coenzyme Q10 deficiency

Complex (oxphos) deficiency, combined

Complex I deficiency

Complex II deficiency

Complex III deficiency

Complex IV deficiency

Complex V deficiency

Dihydrolipoamide dehydrogenase

Glutaminyl-tRNA synthase deficiency

Growth hormone deficiency

Hyperuricemia- pulmonary hypertension- renal failure and alkalosis

Hypomyelination

Isobutyryl-CoA dehydrogenase deficiency

Isocitrate dehydrogenase deficiency

Leigh syndrome

Leukoencephalopathy

Lipoic acid synthase deficiency

Malate dehydrogenase deficiency

Megdel syndrome

Mitochondrial disorders (WES)

Mitochondrial DNA depletion syndrome

Mitochondrial PEPCK deficiency

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Mitochondriopathy

Multiple mitochondrial dysfunctions syndrome

Neurodegeneration with brain iron accumulation

Ophthalmoplegia, chronic progressive (PEO)

Optic atrophy

Perrault syndrome

POLG syndrome

Prohibitin deficiency

Pyruvate carboxylase deficiency

Pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase kinase deficiency

Pyruvate dehydrogenase phosphatase deficiency

Sengers syndrome

Spastic paraplegia, autosomal recessive

Thiamine metabolism dysfunction syndrome