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Summary
MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) MTDPS15
617156
OMIM = Online Medalian Inheritance of Men
---
10q21.1
very rare
autosomal recessive
mutation in the TFAM gene
symptoms
cholestasis
cirrhosis or fibrosis of liver
Coagulopathy/Coagulation factors
early death
failure to thrive
hypoglycemia
intrauterine growth retardation
jaundice
liver failure
onset, neonatal
laboratory finding
D-Glucose mmol/lserum
L-Tyrosine +€mol/lplasma
Methionine +€mol/lplasma
Literature
Pendini NR,et al.Microbial biotin protein ligases aid in understanding holocarboxylase synthetase deficiencyBiochim Biophys Acta17847973-9822008