MİTOCHONDRİAL DİSEASES
I-CARBOHYDRATE METABOLİSM
A-PCD “Pyruvate carboxylase deficiency” “Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency, Ataxia with lactic acidosis II”
B-PDHA “Pyruvate dehydrogenase deficiency”
II-PRİMARİLY NERVOUS SYSTEM
A-Leigh disease “Juvenile subacute necrotizing encephalomyelopathy, Leigh disease, infantile subacute necrotizing encephalomyelopathy, subacute necrotizing encephalomyelopathy (SNEM)”
B-LHON “Leber’s hereditary optic neuropathy”
C-NARP “Neuropathy, ataxia, and retinitis pigmentosa” “Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome”
III-MYOPATHİES
A-KSS “Kearns–Sayre syndrome (KSS), oculocraniosomatic disorder or oculocranionsomatic neuromuscular disorder with ragged red fibers”
B-Mitochondrial encephalomyopathy
1-MELAS “Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes”
2-MERRF “myoclonic epilepsy with ragged red fibers” “Fukuhara syndrome”
C-PEO “Chronic progressive external ophthalmoplegia (CPEO)”
IV-NO PRİMARY SYSTEM
A-DAD “Diabetes and deafness (DAD) or maternally inherited diabetes and deafness (MIDD) or mitochondrial diabetes”
B-MNGIE “Mitochondrial neurogastrointestinal encephalopathy syndrome”
C-Pearson syndrome “Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction, Pearson’s marrow/pancreas syndrome”
V-CHROMOSOMAL
A-OPA1 Kjer’s optic neuropathy “Dominant optic atrophy (DOA), or autosomal dominant optic atrophy (ADOA), (Kjer’s type)”
B-SARS2 HUPRA syndrome “Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome”
C-TIMM8A Mohr–Tranebjærg syndrome “Deafness–dystonia–optic neuronopathy syndrome,”