acronym for MiTochondrial DNA DePletion Syndrome

Group of encephalopathies due to mitochondrial DNA depletion. Autosomal recessive transmission.

Twenty types have been identified::

-        MTDPS1 [MIM 603 041] or MNGIe, mutation of the TYMP gene (22q13.33), neurogastrointestinal form

-        MTDPS2 [MIM 609 560], mutation of the TK2 gene

-        MTDPS3 [MIM 251 880], mutation of the DGUOK gene

-        MTDPS4A [MIM 203 700], mutation of the POLG gene

-        MTDPS4B [MIM 613 662], mutation of the POLG gene

-        MTDPS5 [MIM 612 073], mutation of the SUCLA2 gene

-        MTDPS6 [MIM 256 810], mutation of the MVP17 gene, neurohepatic form of the Navajo Indians

-        MTDPS7 [MIM 271 245], mutation of the C10ORF2 gene

-        MTDPS8A and B [MIM 612 075], mutation of the RRM2B  gene

-        MTDPS9 [MIM 245 400], mutation of the SUCLG1 gene

-        MTDPS10 [MIM 212 350], mutation of the AGK gene

-        MTDPS11 [MIM 615 084], mutation of the MGME1 gene

-        MTDPS12A [MIM 617 184], mutation of the SLC25A4 gene

-        MTDPS12B [MIM 615 084], mutation of the SLC25A4 gene

-        MTDPS13 [MIM 615 471], mutation of the FBX24 gene

-        MTDPS14 [MIM 616 896], mutation in the OPA1 gene

-        MTDPS15 [MIM 617 156], mutation of the TFAM gene

-        MTDPS16 [MIM 618 528], mutation of the POLG2 gene

-        MTDPS17 [MIM 618 567], mutation of the MRM2 gene

-        MTDPS18 [MIM 618 811], mutation of the SLC25A21 gene

-        MTDPS19 [MIM 618 972], mutation of the SLC25A10 gene

-        MTDPS20 [MIM 619 780], mutation of the LIG3 gene

Anesthetic implications:

see mitochondrial cytopathies

References :

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Updated: August 2022