MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE); MTDPS6

Question 1

What is  MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE); MTDPS6?

Accepted Answer

rare
autosomal recessive
mutation in the MPV17 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mitochondriales DNA-Depletionssyndrom, hepatocerebrale Form; Navajo-Neurohepatopathie; MTDPS6

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 256810

Question 4

Which enzymes are involved?

Accepted Answer

Protein Mpv17

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE); MTDPS6
Synonym	NAVAJO NEUROHEPATOPATHY; NNH
OMIM	256810 OMIM = Online Mendelian Inheritance of Men
Orphanet	255229
Protein (UniProt)	Protein Mpv17
Gene locus	2p23.3
ICD
Summary	rare autosomal recessive mutation in the MPV17 gene
Laboratory findings	D-Glucose dec (plasma) L-Lactic acid inc (plasma) Transaminases (ASAT/ALAT) normal/inc (serum)
Symptoms	ataxia bone fractures cholestasis cirrhosis or fibrosis of liver developmental delay diarrhea dystonia failure to thrive hepatomegaly (large liver) hyperaesthesia hypoglycemia hyporeflexia hypotonia infections (severe or recurrent) insensitivity to pain lactic acidosis liver failure muscle weakness nystagmus onset, infancy peripheral neuropathy short stature vomiting