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Summary
SUDDEN CARDIAC FAILURE, INFANTILE (SCFI)
617222
OMIM = Online Medalian Inheritance of Men
4q24
very rare
autosomal recessive
mutation in the PPA2 gene
symptoms
bradycardia
cardiomyopathy
cardiomyopathy, hypertrophic
heart failure, cardiac failure
hypotonia
lactic acidosis
metabolic acidosis
myocarditis
onset, childhood
onset, infancy
seizures
laboratory finding
L-Lactic acid mmol/lserum
Literature
Finsterer J,Scorza CA, Scorza FAPhenotypic spectrum of FARS2-deficiencyMol Genet Metab Rep14041-422017
Jang YJ,et al.Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase geneHum Mutat394527-5362018
dAcierno A,et al.The evolution of a Web resource: The Galactosemia Proteins Database 2.0Hum Mutat39152-602018