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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 (MC1DN25)
NDUFB3
618246
OMIM = Online Medalian Inheritance of Men
2609
2q33.1
very rare
autosomal recessive
mutation in the NDUFB3 gene
symptoms
developmental delay
early death
encephalopathy
failure to thrive
feeding difficulties, poor feeding
hypotonia
intrauterine growth retardation
lactic acidosis
myopathy
onset, fetus
onset, infancy
onset, neonatal
prematurity, premature delivery
respiratory insufficiency
laboratory finding
L-Lactic acid mmol/lserum
Literature
Aydin HICreatine Transporter Deficiency in Two Brothers with Autism Spectrum DisorderIndian Pediatr55167-682018
Longo N,et al.Disorders of creatine transport and metabolismAm J Med Genet C Semin Med Genet157172-782011
Gataullina S,Dulac OFrom genotype to phenotype in Dravet diseaseSeizure44058-642017