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Mitochondrial DNA depletion syndrome, hepatocerebral form

MedGen UID:
777993
•Concept ID:
C3711385
•
Disease or Syndrome
Synonyms: Deoxyguanosine Kinase Deficiency; Dguok-Related Mitochondrial Dna Depletion Syndrome; Hepatocerebral Mitochondrial Dna Depletion Syndrome; Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form
 
Monarch Initiative: MONDO:0100512

Recent clinical studies

Etiology

A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome.
Kishita Y, Shimura M, Kohda M, Akita M, Imai-Okazaki A, Yatsuka Y, Nakajima Y, Ito T, Ohtake A, Murayama K, Okazaki Y
Mol Genet Genomic Med 2020 Oct;8(10):e1427. Epub 2020 Aug 4 doi: 10.1002/mgg3.1427. PMID: 32749073Free PMC Article
Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
Haudry C, de Lonlay P, Malan V, Bole-Feysot C, Assouline Z, Pruvost S, Brassier A, Bonnefont JP, Munnich A, Rötig A, Lebre AS
Mol Genet Metab 2012 Dec;107(4):700-4. Epub 2012 Oct 22 doi: 10.1016/j.ymgme.2012.10.008. PMID: 23141463
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento A, Colomer J, Campistol J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A
Mol Genet Metab 2012 Nov;107(3):409-15. Epub 2012 Aug 31 doi: 10.1016/j.ymgme.2012.08.018. PMID: 22980518

Diagnosis

MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome.
Hong KT, Lim BC, Moon JS, Ko JS
Korean J Gastroenterol 2021 May 25;77(5):248-252. doi: 10.4166/kjg.2020.170. PMID: 34035203
Mitochondrial depletion syndromes in children and adults.
Finsterer J, Ahting U
Can J Neurol Sci 2013 Sep;40(5):635-44. doi: 10.1017/s0317167100014852. PMID: 23968935
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento A, Colomer J, Campistol J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A
Mol Genet Metab 2012 Nov;107(3):409-15. Epub 2012 Aug 31 doi: 10.1016/j.ymgme.2012.08.018. PMID: 22980518
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene.
AlSaman A, Tomoum H, Invernizzi F, Zeviani M
Saudi J Gastroenterol 2012 Jul-Aug;18(4):285-9. doi: 10.4103/1319-3767.98439. PMID: 22824774Free PMC Article

Prognosis

Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene.
AlSaman A, Tomoum H, Invernizzi F, Zeviani M
Saudi J Gastroenterol 2012 Jul-Aug;18(4):285-9. doi: 10.4103/1319-3767.98439. PMID: 22824774Free PMC Article

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