MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28; MC1DN28

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28; MC1DN28?

Accepted Answer

rare

autosomal recessive

mutation in the NDUFA13 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618249

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28; MC1DN28
Synonym	NDUFA13
OMIM	618249 OMIM = Online Mendelian Inheritance of Men
Orphanet	255241
Protein (UniProt)	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13
Gene locus	19p13.11
ICD	G31.8
Summary	rare autosomal recessive mutation in the NDUFA13 gene
Laboratory findings	Alanine inc (serum) L-Lactic acid inc (serum)
Symptoms	chorea or athetosis defect of walking, running, rising or climbing developmental delay dyskinesia eye movements, abnormal failure to thrive hearing defect, deafness hypotonia intellectual disability/intellectual developmental disorder onset, childhood onset, infancy onset, neonatal optic atrophy optic neuropathy pyramidal signs speech development, delayed, abnormal