MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (MMDS6)

Question 1

What is  MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (MMDS6)?

Accepted Answer

very rare

autosomal recessive

mutation in the PMPCB gen

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617954

Question 3

Which enzymes are involved?

Accepted Answer

Mitochondrial-processing peptidase subunit beta

Disease	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (MMDS6)
OMIM	617954 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Mitochondrial-processing peptidase subunit beta
Gene locus	7q22.1
ICD
Summary	very rare autosomal recessive mutation in the PMPCB gen
Laboratory findings	L-Lactic acid inc (serum)
Symptoms	ataxia cerebellar atrophy or hypoplasia developmental delay developmental regression dystonia encephalopathy epilepsy failure to thrive feeding difficulties, poor feeding hearing defect, deafness hypertonia, spasticity hypotonia intellectual disability/intellectual developmental disorder Leigh syndrome leukoencephalopathy microcephaly (<2 SD for age) onset, childhood onset, infancy psychomotor retardation