RIBONUCLEOTIDE REDUCTASE, M2 B; RRM2B

Question 1

What is  RIBONUCLEOTIDE REDUCTASE, M2 B; RRM2B?

Accepted Answer

-> MIM 612075

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

-> Mitochondriales DNA-Depletionssyndrom, enzephalomyopathische Form mit renaler Tubulopathie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 604712

Question 4

Which enzymes are involved?

Accepted Answer

Ribonucleoside-diphosphate reductase subunit M2 B

Disease	RIBONUCLEOTIDE REDUCTASE, M2 B; RRM2B
Synonym	MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MTDPS8A
OMIM	604712 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Ribonucleoside-diphosphate reductase subunit M2 B
ExPASy	1.17.4.1.
Gene locus	8q22.3
ICD
Summary	-> MIM 612075
Laboratory findings
Symptoms	gastrointestinal dysmotility onset, infancy onset, neonatal seizures