Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop...

in TK2 deficiency (Mitochondrial DNA depletion syndrome 2 myopathic type). Avoiding physically stressful situations that deplete glycogen reserves, such...

intolerance MELAS syndrome, mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes Mitochondrial DNA depletion syndrome Conditions such...

syndrome). The disease presents in childhood, but often goes unnoticed for decades. Unlike typical mitochondrial diseases caused by mitochondrial DNA...

in the mitochondrial genome which is inherited purely from the female parent. The most common MELAS mutation is mitochondrial mutation, mtDNA, referred...

2016 – 28 July 2017), an infant boy from London, born with mitochondrial DNA depletion syndrome (MDDS), a rare genetic disorder that causes progressive brain...

Joubert syndrome 1 Kleefstra syndrome 2 Langer-Giedion syndrome Microphthalmia with brain and digit anomalies Mitochondrial DNA depletion syndrome 13 Muenke...

degeneration (AMD) Marfan's syndrome (MFS) Some mitochondrial myopathies Mitochondrial DNA depletion syndrome Mueller–Weiss syndrome Multiple sclerosis (MS)...

Knobloch syndrome Marfan syndrome Mitochondrial DNA depletion syndrome 13 Nance-Horan syndrome Oculofaciocardiodental syndrome Otofaciocervical syndrome 1 Proximal...

Mismatch repair cancer syndrome Mitochondrial DNA depletion syndrome Mitochondrial neurogastrointestinal encephalopathy syndrome Mitral valve prolapse...

healthcare. The condition begins in 85% of cases as a clinically isolated syndrome (CIS) over a number of days with 45% having motor or sensory problems,...

ES, Wong LJ (July 2010). "Quantitative evaluation of the mitochondrial DNA depletion syndrome". Clinical Chemistry. 56 (7): 1119–27. doi:10.1373/clinchem...

succinate. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6...

homocystinuria, type cblD". Orphanet. Retrieved 2024-04-27. "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria". Orphanet...

Mesothelioma Methylmalonic acidemia Mitiglinide Mitochondrial DNA depletion syndrome, hepatocerebral form Mitochondrial trifunctional protein deficiency Multiple...

lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. Diseases associated with AGK include cataracts and cardiomyopathy...

Arts syndrome Autosomal recessive nonsyndromic sensorineural deafness type DFNB Friedreich ataxia MELAS syndrome Mitochondrial DNA depletion syndrome (encephalomyopathic...

Mal de debarquement (MdDS), a rare neurological condition Mitochondrial DNA depletion syndrome, a group of autosomal recessive disorders MDD (disambiguation)...

in the thymidine kinase gene may have a certain type of mitochondrial DNA depletion syndrome, a disease that leads to death in early childhood. Wikimedia...

mutated. Abnormalities in this gene are one of the causes of mitochondrial DNA depletion syndrome (MDDS). Neonatal hypotonia, developmental delay, encephalopathy...

syndrome Gyrate atrophy of choroid and retina Hydrolethalus syndrome 1 Infantile-onset spinocerebellar ataxia (Mitochondrial DNA depletion syndrome 7)...

required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate...

decrease in mitochondrial respiration and an increase in mitochondrial mass in fat cells. Stavudine also causes severe mitochondrial DNA depletion. Combining...

context is a DNA alteration that has an abnormal structure. Although both mitochondrial and nuclear DNA damage can contribute to aging, nuclear DNA is the main...

can affect metabolism and mitochondrial function in newborns with ZTTK syndrome. Metabolic screening confirmed mitochondrial dysfunction and O-glycosylation...

the mitochondrial DNA can also cause a Gitelman-like syndrome. These homoplasmic mitochondrial DNA mutations are maternally inherited. To treat the symptoms...

in to investigate after a father (Joe Tapper) kidnaps his mitochondrial DNA depletion syndrome-affected infant. When the father is found, he says he wants...

gene. Mutations in this gene have been linked to inherited mitochondrial DNA depletion syndromes, neonatal liver failure, nystagmus and hypotonia. GRCh38:...

hepatocerebral form of mitochondrial DNA depletion syndrome (MDS), a mutation in this protein leads to an mtDNA (mitochondrial DNA) copy number decrease...

DNA polymerase subunit gamma (POLG or POLG1) is an enzyme that in humans is encoded by the POLG gene. Mitochondrial DNA polymerase is heterotrimeric,...