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Summary
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39 EIEE39
ASPARTATE-GLUTAMATE CARRIER 1 DEFICIENCY AGC1 DEFICIENCY
612949
OMIM = Online Medalian Inheritance of Men
353217
2q31.1
rare
autosomal recessive
mutation in the SLC25A12 gene
symptoms
developmental delay
encephalopathy
hyperreflexia
hypertonia, spasticity
hypotonia
myelination, incomplete, hypomyelination
onset, infancy
psychomotor retardation
seizures
speech development, delayed, abnormal
laboratory finding
MRI, brain, abnormalities -
L-Lactic acid increasedplasma
Literature
Huybrechts S,et al.Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different PhenotypeJIMD Rep40103-1082012
Luebbehusen J,et al.Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylationHum Mol Genet19183623-36332010