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Summary
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 EIEE50 (CAD)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iz, FORMERLY
616457
OMIM = Online Medalian Inheritance of Men
448010
2p23.3
very rare
autosomal recessive
mutation in the CAD gene
symptoms
altered consciousness, consciousness disturbance
anemia
cerebral atrophy
early death
encephalopathy
epilepsy
hyperammonemia
hypotonia
onset, childhood
onset, infancy
psychomotor retardation
renal tubular acidosis
seizures
speech development, delayed, abnormal
laboratory finding
Ammonia +€mol/lblood
Literature
Renard D,Labauge PPosterior leukoencephalopathy in NARP syndromeActa Neurol Belg1124417-4182012
Taanman JW,et al.Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Neuromuscul Disord192151-1542009