Mitochondrial diseases

human disease

Human disease

human disease

spontaneously occuring or inherited disorder that involves mitochondrial dysfunction

Human disease

spontaneous occuring or inherited mitochondrial myopathy with a typical onset before 20 years of age

mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity

lipid metabolism disorder that has material basis in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin

one of the family of mitochondrial cytopathies, which also include MERRF, and Leber's hereditary optic neuropathy

organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy

mitochondrial disease

organic acidemia that involves an accumulation of methylmalonic acid in the blood

special form of in vitro fertilisation

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder

mitochondrial metabolism disease

myopathy characterized by mitochondrial dysfunction

human disease

amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues

human disease

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy

Human disease

medical condition

auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms