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deficiëntie van alfa-ketoglutaraatdehydrogenase (aandoening)
deficiëntie van alfa-ketoglutaraatdehydrogenase
oxoglutaaracidurie
alfa-ketoglutaraatdehydrogenasedeficiëntie
Deficiency of alpha-ketoglutarate dehydrogenase
Oxoglutaricaciduria
A very rare tricarboxylic acid cycle disorder resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.
Id733630004
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8
CorrelationSNOMED CT source code to target map code correlation not specified