| H01389 | |
| H number | H01389 |
| Name | Alpers syndrome; Alpers-Huttenlocher syndrome; Diffuse cerebral sclerosis of Schilder; Hepatocerebral degeneration of childhood; Mitochondrial DNA depletion syndrome 4A |
| Description | Alpers syndrome is a rare mitochondrial disease associated with mutations in the POLG1 gene encoding the mitochondrial DNA polymerase gamma. Alpers syndrome affects children and young adults and is characterized by the clinical triad of refractory seizures, psychomotor regression, and characteristic liver disease. The tempo of disease progression and onset varies among patients. The majority of patients are healthy before disease onset, and seizures herald the disorder in most patients. |
| Category | Inherited metabolic disorder, Mitochondrial disease |
| Network | - |
| Gene | POLG [HSA:5428] [KO:K02332] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | (The most common mutation) A467T (Juvenile-onset) W748S G848S E1143G E873X |
| Other DBs | ICD-11: 5C53.20 ICD-10: G31.8 MeSH: D002549 OMIM: 203700 |
| Reference | PMID:23419467 AUTHORS Saneto RP, Cohen BH, Copeland WC, Naviaux RK TITLE Alpers-Huttenlocher syndrome. JOURNAL Pediatr Neurol 48:167-78 (2013) DOI:10.1016/j.pediatrneurol.2012.09.014 PMID:18294203 AUTHORS Uusimaa J, Hinttala R, Rantala H, Paivarinta M, Herva R, Roytta M, Soini H, Moilanen JS, Remes AM, Hassinen IE, Majamaa K TITLE Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. JOURNAL Epilepsia 49:1038-45 (2008) DOI:10.1111/j.1528-1167.2008.01544.x PMID:16177225 AUTHORS Nguyen KV, Ostergaard E, Ravn SH, Balslev T, Danielsen ER, Vardag A, McKiernan PJ, Gray G, Naviaux RK TITLE POLG mutations in Alpers syndrome. JOURNAL Neurology 65:1493-5 (2005) DOI:10.1212/01.wnl.0000182814.55361.70 |