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Summary
UREMIA DD

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
symptoms
onset, adolescent
onset, childhood
onset, infancy
renal failure, acute/chronic
laboratory finding
2-Hydroxyphenylacetic acid mmol/mol Creaurine
Uric acid +€mol/lserum
3-Methylglutaconic acid mmol/mol Creaurine
2-Oxoglutaric acid mmol/mol Creaurine
Glycerol mmol/mol Creaurine
2-Furoylglycine mmol/mol Creaurine
Hippuric acid mmol/mol Creaurine
Literature
Charif M,et al.Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variantAm J Med Genet A167102366-23742015
Ghezzi D,et al.Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosisAm J Hum Genet9061079-10872012