MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (MC1DN33)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (MC1DN33)?

Accepted Answer

very are

autosomal recessive

mutation in the NDUFA6 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618253

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 (MC1DN33)
Synonym	NDUFA6
OMIM	618253 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6
ExPASy	---
Gene locus	2q13.2
ICD
Summary	very are autosomal recessive mutation in the NDUFA6 gene
Laboratory findings	D-Glucose dec (serum) L-Lactic acid inc (serum) L-Lactic acid inc (cerebrospinal fluid)
Symptoms	apnea cerebellar atrophy or hypoplasia developmental delay dysphagia early death feeding difficulties, poor feeding hyperammonemia hypertonia, spasticity hypoglycemia hypotonia metabolic acidosis neurological deterioration onset, infancy onset, neonatal optic atrophy respiratory insufficiency small for gestational age (SGA), intrauterine growth retardation (IUGR) speech development, delayed, abnormal swallowing difficulties white matter changes, abnormalities