MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (MNGIE)

Question 1

What is  MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (MNGIE)?

Accepted Answer

rare
autosomal recessive
mutation in the RRM2B gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mitochondriales DNA-Depletionssyndrom, enzephalomyopathische Form mit renaler Tubulopathie ;MTDPS8A

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 612075

Question 4

Which enzymes are involved?

Accepted Answer

Ribonucleoside-diphosphate reductase subunit M2 B

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (MNGIE)
Synonym	MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE
OMIM	612075 OMIM = Online Mendelian Inheritance of Men
Orphanet	255235
Protein (UniProt)	Ribonucleoside-diphosphate reductase subunit M2 B
ExPASy	1.17.4.1
Gene locus	8q22.3
ICD	G31.8
Summary	rare autosomal recessive mutation in the RRM2B gene
Laboratory findings	L-Lactic acid inc (plasma)
Symptoms	abdominal esophageal perforation Amino acids, urine cachexia early death eye movements, abnormal failure to thrive feeding difficulties, poor feeding gastrointestinal dysmotility hypotonia infections (local, abscesses) lactic acidosis mental retardation metabolic acidosis onset, infancy ophthalmoplegia progressive neurologic defect renal dysfunction, renal defects seizures tubulopathy weight loss