Inborn errors of metabolismGene: NDUFA2
only one patient reported in literature to date:
The patient, a boy, was the second child of consanguineous Turkish parents (first cousins). His older sister was healthy. Pregnancy and delivery were uneventful. At the fifth day of life, hypertrophic cardiomyopathy was diagnosed. Development was retarded from birth, and at the age of four months, cerebral atrophy and hypoplasia of the corpus callosum were seen on MRI. Some weeks later, atrophy of the N. opticus was diagnosed. At 7.5 months, after a 2 day episode of vomiting and 2 weeks after a varicella infection, the patient suddenly developed severe acidosis, generalized tonic-clonic seizures, and coma. The patient did not gain consciousness again and needed artificial respiration for 43 days. Afterwards, respiration was unstable, and the patient had recurrent episodes of apnea and bradycardia, often accompanied by seizures, which increased in frequency. Finally, MRI showed demyelinization of cortico-spinal tracts and subacute necrotizing encephalomyelopathy as seen in Leigh syndrome. At eleven months, the patient died of cardiovascular arrest, after further episodes of apnea and asystolia.
Created: 3 Feb 2016, 4:57 p.m.
Created: 3 Feb 2016, 4:55 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to NDUFA2. Source London North GLH was added to NDUFA2.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFA2 Publications for gene NDUFA2 were changed from to 27604308
gene: NDUFA2 was added gene: NDUFA2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA2 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency