MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE); MTDPS15

Question 1

What is  MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE); MTDPS15?

Accepted Answer

very rare

autosomal recessive

mutation in the TFAM gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mitochondriales DNA-Depletionssyndrom 15; MTDPS15

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 617156

Question 4

Which enzymes are involved?

Accepted Answer

Transcription factor A, mitochondrial

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE); MTDPS15
OMIM	617156 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Transcription factor A, mitochondrial
Gene locus	10q21.1
ICD
Summary	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