MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 (MC1DN27)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 (MC1DN27)?

Accepted Answer

very rare

autosomal recessive

mutation in the MTFMT gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618248

Question 3

Which enzymes are involved?

Accepted Answer

Methionyl-tRNA formyltransferase, mitochondrial

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 (MC1DN27)
Synonym	MTFMT
OMIM	618248 OMIM = Online Mendelian Inheritance of Men
Orphanet	255241
Protein (UniProt)	Methionyl-tRNA formyltransferase, mitochondrial
Gene locus	15q22.31
ICD	G31.8
Summary	very rare autosomal recessive mutation in the MTFMT gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	developmental delay hypertonia, spasticity hypotonia intellectual disability/intellectual developmental disorder onset, childhood onset, infancy optic atrophy white matter changes, abnormalities