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Summary
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 (EIEE51)
617339
OMIM = Online Medalian Inheritance of Men
7q11.23
rare
autosomal recessive
utation in the MDH2 gene
symptoms
abnormal movement
cerebellar atrophy or hypoplasia
constipation
dystonia
early death
encephalopathy
epilepsy
failure to thrive
feeding difficulties, poor feeding
hyporeflexia
hypotonia
inverted nipples
lactic acidosis
muscle atrophy
muscle weakness
onset, infancy
onset, neonatal
pyramidal signs
retinitis pigmentosa
seizures
speech development, delayed, abnormal
strabismus
laboratory finding
L-Lactic acid mmol/lblood
L-Lactic acid mmol/lcerebrospinal fluid
Fumaric acid mmol/mol Creaurine
Citric acid mmol/mol Creaurine
Malic acid mmol/mol Creaurine
Literature
Westland R,et al.Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentationClin Nephrol786492-4962012