MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE)

Question 1

What is  MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE)?

Accepted Answer

rare
autosomal recessive
mutation of the TYMP gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Enzephalomyopathie, mitochondriale neurogastrointestinale; MNGIE-Syndrom; MTDPS1

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 603041

Question 4

Which enzymes are involved?

Accepted Answer

thymidine phosphorylase

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE)
Synonym	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; TYMP
OMIM	603041 OMIM = Online Mendelian Inheritance of Men
Orphanet	298
Protein (UniProt)	thymidine phosphorylase
ExPASy	2.4.2.4
Gene locus	22q13.33
ICD	G71.3
Summary	rare autosomal recessive mutation of the TYMP gene
Laboratory findings	2-Deoxyuridine inc (urine) Thymidine inc (urine) Thymidine inc (plasma) 2-Deoxyuridine inc (plasma) L-Lactic acid inc (plasma)
Symptoms	areflexia cachexia diarrhea gastrointestinal dysmotility hearing defect, deafness lactic acidosis leukoencephalopathy malabsorption muscle weakness myopathy neuropathy onset, adolescent onset, adulthood onset, childhood ophthalmoplegia pain, abdominal peripheral neuropathy peripheral neuropathy ptosis (drooping eyelid) vomiting weight loss white matter changes, abnormalities