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...
23 KB (2,562 words) - 19:54, 23 August 2024
in TK2 deficiency (Mitochondrial DNA depletion syndrome 2 myopathic type). Avoiding physically stressful situations that deplete glycogen reserves, such...
40 KB (3,236 words) - 05:10, 5 August 2024
intolerance MELAS syndrome, mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes Mitochondrial DNA depletion syndrome Conditions such...
33 KB (3,499 words) - 10:06, 30 May 2024
syndrome). The disease presents in childhood, but often goes unnoticed for decades. Unlike typical mitochondrial diseases caused by mitochondrial DNA...
9 KB (800 words) - 20:06, 6 December 2023
in the mitochondrial genome which is inherited purely from the female parent. The most common MELAS mutation is mitochondrial mutation, mtDNA, referred...
16 KB (1,759 words) - 06:36, 2 May 2024
2016 – 28 July 2017), an infant boy from London, born with mitochondrial DNA depletion syndrome (MDDS), a rare genetic disorder that causes progressive brain...
101 KB (12,457 words) - 12:40, 22 August 2024
Plagiocephaly (redirect from Flat head syndrome)
Joubert syndrome 1 Kleefstra syndrome 2 Langer-Giedion syndrome Microphthalmia with brain and digit anomalies Mitochondrial DNA depletion syndrome 13 Muenke...
18 KB (1,736 words) - 03:33, 30 July 2024
degeneration (AMD) Marfan's syndrome (MFS) Some mitochondrial myopathies Mitochondrial DNA depletion syndrome Mueller–Weiss syndrome Multiple sclerosis (MS)...
16 KB (1,643 words) - 13:32, 29 July 2024
Narrow face (section Syndromes (conditions))
Knobloch syndrome Marfan syndrome Mitochondrial DNA depletion syndrome 13 Nance-Horan syndrome Oculofaciocardiodental syndrome Otofaciocervical syndrome 1 Proximal...
4 KB (224 words) - 07:14, 15 April 2024
Mismatch repair cancer syndrome Mitochondrial DNA depletion syndrome Mitochondrial neurogastrointestinal encephalopathy syndrome Mitral valve prolapse...
42 KB (4,065 words) - 11:33, 29 August 2024
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,...
170 KB (18,096 words) - 00:56, 30 August 2024
ES, Wong LJ (July 2010). "Quantitative evaluation of the mitochondrial DNA depletion syndrome". Clinical Chemistry. 56 (7): 1119–27. doi:10.1373/clinchem...
55 KB (5,349 words) - 12:20, 7 March 2024
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...
14 KB (1,745 words) - 05:53, 12 January 2024
homocystinuria, type cblD". Orphanet. Retrieved 2024-04-27. "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria". Orphanet...
49 KB (4,433 words) - 18:08, 16 June 2024
Mesothelioma Methylmalonic acidemia Mitiglinide Mitochondrial DNA depletion syndrome, hepatocerebral form Mitochondrial trifunctional protein deficiency Multiple...
21 KB (1,265 words) - 01:46, 22 December 2023
lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. Diseases associated with AGK include cataracts and cardiomyopathy...
11 KB (1,381 words) - 06:22, 10 June 2024
Arts syndrome Autosomal recessive nonsyndromic sensorineural deafness type DFNB Friedreich ataxia MELAS syndrome Mitochondrial DNA depletion syndrome (encephalomyopathic...
9 KB (1,034 words) - 19:10, 12 October 2023
Mal de debarquement (MdDS), a rare neurological condition Mitochondrial DNA depletion syndrome, a group of autosomal recessive disorders MDD (disambiguation)...
1 KB (68 words) - 14:27, 6 March 2021
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...
34 KB (3,807 words) - 19:38, 18 August 2024
mutated. Abnormalities in this gene are one of the causes of mitochondrial DNA depletion syndrome (MDDS). Neonatal hypotonia, developmental delay, encephalopathy...
12 KB (1,504 words) - 20:38, 1 February 2024
syndrome Gyrate atrophy of choroid and retina Hydrolethalus syndrome 1 Infantile-onset spinocerebellar ataxia (Mitochondrial DNA depletion syndrome 7)...
13 KB (1,459 words) - 20:06, 6 May 2024
required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate...
1 KB (193 words) - 14:52, 20 January 2024
Organic anion transporter 1 (redirect from Iatrogenic Fanconi syndrome)
decrease in mitochondrial respiration and an increase in mitochondrial mass in fat cells. Stavudine also causes severe mitochondrial DNA depletion. Combining...
22 KB (2,503 words) - 00:44, 4 March 2023
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...
96 KB (10,994 words) - 05:19, 16 August 2024
can affect metabolism and mitochondrial function in newborns with ZTTK syndrome. Metabolic screening confirmed mitochondrial dysfunction and O-glycosylation...
25 KB (2,954 words) - 11:16, 11 May 2024
the mitochondrial DNA can also cause a Gitelman-like syndrome. These homoplasmic mitochondrial DNA mutations are maternally inherited. To treat the symptoms...
28 KB (2,941 words) - 22:23, 13 August 2024
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...
81 KB (4,147 words) - 20:16, 5 August 2024
gene. Mutations in this gene have been linked to inherited mitochondrial DNA depletion syndromes, neonatal liver failure, nystagmus and hypotonia. GRCh38:...
8 KB (1,023 words) - 22:39, 18 August 2023
hepatocerebral form of mitochondrial DNA depletion syndrome (MDS), a mutation in this protein leads to an mtDNA (mitochondrial DNA) copy number decrease...
10 KB (1,316 words) - 20:03, 30 August 2023
POLG (redirect from DNA polymerase gamma)
DNA polymerase subunit gamma (POLG or POLG1) is an enzyme that in humans is encoded by the POLG gene. Mitochondrial DNA polymerase is heterotrimeric,...
15 KB (1,864 words) - 21:00, 1 May 2024