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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (MC1DN18)
NDUFAF3
618240
OMIM = Online Medalian Inheritance of Men
2609
3p21.31
very rare
autosomal recessive
mutation in the NDUFAF3 gene
symptoms
abnormal movement
developmental delay
early death
feeding difficulties, poor feeding
hydronephrosis
hyperreflexia
hypertonia, spasticity
hypotonia
lactic acidosis
macrocephaly (large calvaria, >2 SD for age)
myoclonus
onset, neonatal
optic atrophy
respiratory insufficiency
seizures
laboratory finding
L-Lactic acid mmol/lserum
L-Lactic acid mmol/lcerebrospinal fluid
Literature
Guerbuez F,Yueksel B, Topaloglu AKWolcott-Rallison Syndrome with Novel EIF2AK3 Gene MutationJ Clin Res Pediatr Endocrinol84496-4972016
Sreeramaneni PGA,Ambula SRVKetoacidosis in Neonatal Diabetes Mellitus, Part of Wolcott-Rallison SyndromeAm J Case Rep180719-7222017