Amish, Mennonite, and Hutterite
Genetic Disorder Database

Mitochondrial DNA depletion syndrome 4A

Disorder
OMIM #: #203700  (Click to access OMIM database)
Disorder: Mitochondrial DNA depletion syndrome 4A  
Also known as: Alpers type, POLG related mitochondrial disorder  
Clinical
Phenotype: ataxia, lactic acidosis, seizures, developmental delay/mental retardation, hypotonicity, muscle weakness, hepatomegaly, liver disease  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Amish  
Gene: POLG
Base Change: G>A, at nucleotide 1399
Amino Acid Change: ala 467 --> thr
Last updated: 2019-12-24 

References
Ghaloul-Gonzalez L, Goldstein A, Walsh Vockley C, Dobrowolski SF, Biery A, Irani A, Ibarra J, Morton DH, Mohsen AW, Vockley J. (2016) Mitochondrial respiratory chain disorders in the Old Order Amish. Mol Genet Metab 118(4):296-303.
PubMed ID: 27344355 

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