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MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE); MTDPS15

MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE); MTDPS15
617156
OMIM = Online Mendelian Inheritance of Men
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Transcription factor A, mitochondrial
10q21.1
very rare
autosomal recessive
mutation in the TFAM gene
Laboratory findings    D-Glucose dec (serum)
    L-Tyrosine inc (plasma)
    Methionine inc (plasma)
Symptoms    cholestasis
    cirrhosis or fibrosis of liver
    Coagulopathy/Coagulation factors
    early death
    failure to thrive
    hypoglycemia
    intrauterine growth retardation
    jaundice
    liver failure
    onset, neonatal