||||
GM3-synthasedeficiƫntie (aandoening)
GM3-synthasedeficiƫntie
Amish infantiel epilepsiesyndroom
symptomatisch epilepsiesyndroom beginnend op zuigelingenleeftijd
GM3 synthase deficiency
Ganglioside GM3 synthase deficiency
Amish infantile epilepsy syndrome
Infantile-onset symptomatic epilepsy syndrome
Disease with characteristics of recurrent seizures and profound disruption of brain development. Onset is within the first few weeks after birth. The seizures tend to be refractory to treatment. Most affected children have severe intellectual disability. Vision and hearing may be normal at birth but become impaired as the disease progresses. Some affected individuals have changes in skin pigmentation. Mutations in the ST3GAL5 gene have been found to cause GM3 synthase deficiency. This gene provides instructions for the enzyme GM3 synthase, which carries out a chemical reaction that is the first step in the production of gangliosides. ST3GAL5 gene mutations prevent the production of any functional GM3 synthase. Without this enzyme, cells cannot produce gangliosides normally.
Id722762005
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE77.8
RuleTRUE
AdviceALWAYS E77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified