MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Question 1

What is  MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B?

Accepted Answer

rare
autosomal recessve
mutation in the POLG gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

MNGIE-Syndrom [Mitochondriale neurogastrointestinale Enzephalomyopathie]; MTDPS4B

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613662

Question 4

Which enzymes are involved?

Accepted Answer

DNA polymerase subunit gamma-1

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B
Synonym	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, POLG-RELATED
OMIM	613662 OMIM = Online Mendelian Inheritance of Men
Orphanet	298
Protein (UniProt)	DNA polymerase subunit gamma-1
Gene locus	15q26.1
ICD	G71.3
Summary	rare autosomal recessve mutation in the POLG gene
Laboratory findings	L-Lactic acid inc (plasma)
Symptoms	ataxia cachexia constipation developmental delay gastrointestinal dysmotility hearing defect, deafness hypotonia lactic acidosis liver involvement or dysfunction malabsorption MRI, brain, abnormalities [-] muscle weakness neuropathy onset, childhood onset, infancy onset, neonatal ophthalmoplegia pain, abdominal seizures weight loss