[MIM 256 810]

(MTDPS6)

acronym for MiTochondrial DNA DePletion Syndrome type 6)

Extremely rare (incidence < 1.106) except among Native Americans of Navajo origin. Autosomal recessive transmission of a mutation of the MPV17 gene (2p23.3).

Association of:

-        progressive liver failure: jaundice, ascites and episodes of Reye-like syndrome, which often lead to death in less than one year

-        sensory neuropathy: corneal ulcers, painless fractures, self-harm

-        progressive encephalopathy: hypotonia, ataxia, dystonia, progressive lesions of the white matter

Anesthetic implications:

see mitochondrial cytopathies

References :

-        Huang AC, Ebel NH, Romero D, Brock M, Jhun I, Brown M, Enns GM, Esquivel C, Bonham C. 
Outcomes after liver transplantation in MPV17 deficiency (Navajo neurohepatopathy): A single-center case series.
Pediatr Transplantation 2022 ; 26 e14274

Updated: August 2022