Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. Disease data Classification Disease Synonyms AGC1 deficiency Niedobór mitochondialnego nośnika 1 asparaginianu-glutaminianu Mitochondrial aspartate-glutamate carrier 1 deficiency ORPHA code 353217 OMIM code 612949 ICD10 code E88.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl