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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 (MC1DN5)
NDUFS1
618226
OMIM = Online Medalian Inheritance of Men
25609
2q33.3
very rare
autosomal recessive
mutation in the NDUFS1 gene
symptoms
apnea
ataxia
cerebral atrophy
developmental delay
developmental regression
dysphagia
dystonia
early death
failure to thrive
hyperreflexia
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
irritability
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
leukodystrophy
leukoencephalopathy
microcephaly (<2 SD for age)
nystagmus
onset, infancy
ophthalmoplegia
optic atrophy
pyramidal signs
respiratory insufficiency
seizures
speech development, delayed, abnormal
strabismus
vomiting
white matter changes, abnormalities
laboratory finding
L-Lactic acid mmol/lserum
L-Lactic acid mmol/lcerebrospinal fluid
Literature
Wang SJ,et al.Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentationsMetab Brain Dis002018
Bokhari MR1,Bokhari SRACanavan DiseaseStatPearls Internet002019
Thangavelu B,et al.Design and optimization of aspartate N-acetyltransferase inhibitors for the potential treatment of Canavan diseaseBioorg Med Chem253870-8852017
Gowda VK,et al.A case of Canavan disease with microcephalyBrain Dev388759-7622016