carbamoyl phosphate synthetase I deficiency disease
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
Childhood Myocerebrohepatopathy Spectrum
coenzyme Q10 deficiency disease +
combined oxidative phosphorylation deficiency +
Cowden-Like Syndrome
cytochrome-c oxidase deficiency disease +
deafness-dystonia-optic neuronopathy syndrome
Deoxyguanosine Kinase Deficiency
developmental and epileptic encephalopathy 39
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
ethylmalonic encephalopathy
Friedreich ataxia +
GRACILE syndrome
HMG-CoA synthase 2 deficiency
Hypermetabolism due to Defect in Mitochondria
HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2
hypomyelinating leukodystrophy 4
hypotonia-cystinuria syndrome
Late-Onset Carnitine Palmitoyltransferase II Deficiency
Leber hereditary optic neuropathy +
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
Mitochondrial Cardiomyopathy
mitochondrial complex I deficiency +
A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. (DO)
mitochondrial complex II deficiency +
mitochondrial complex III deficiency +
mitochondrial complex V (ATP synthase) deficiency +
Mitochondrial Cytopathy +
mitochondrial DNA depletion syndrome +
Mitochondrial Phosphate Carrier Deficiency
mitochondrial pyruvate carrier deficiency
multiple acyl-CoA dehydrogenase deficiency +
multiple mitochondrial dysfunctions syndrome +
Myopathy with Giant Abnormal Mitochondria
Myopathy, Cataract, Hypogonadism Syndrome
Noninsulin-Dependent Diabetes Mellitus with Deafness
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
optic atrophy 1
Parkinson's Disease, Mitochondrial
Pearson syndrome
Progressive External Ophthalmoplegia with Hypogonadism
Proximal Myopathy with Focal Depletion of Mitochondria
pyruvate carboxylase deficiency disease +
pyruvate decarboxylase deficiency +
sarcosinemia
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT
;
NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT with severe deficiency of respiratory complex I