Alpers syndrome; Alpers-Huttenlocher syndrome; Diffuse cerebral sclerosis of Schilder; Hepatocerebral degeneration of childhood; Mitochondrial DNA depletion syndrome 4A
Supergrp
Mitochondrial DNA depletion syndrome [DS:H00469] Mitochondrial disease [DS:H01427]
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.
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C53 Inborn errors of energy metabolism
H01389 Alpers syndrome
