Amish, Mennonite, and Hutterite
Genetic Disorder Database

MELAS syndrome

Disorder
OMIM #: *590050  (Click to access OMIM database)
Disorder: MELAS syndrome 
Also known as: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES  
Clinical
Phenotype: lactic acidosis, seizures, hearing impairment, weakness, lethargy, diabetes mellitus, arrhythmia/abnormal EKG, cardiomyopathy, optic atrophy, retinal pigmentation, ataxia  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Amish  
Gene: MTTL1
Base Change: m.3243A>C
Amino Acid Change:
Last updated: 2018-04-20 

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 population. Mol Genet Metab 118(4):296-303.
PubMed ID: 27344355 

Back