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Histidinemia is a rare autosomal recessive … Histidinemia is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of the amino acid histidine. Although originally thought to be linked to multiple developmental disorders histidinemia is now accepted as a relatively benign disorder, leading to a reduction in the prevalence of neonatal screening procedures.evalence of neonatal screening procedures.
, Histidinemie (ook wel histidinurie genaamd … Histidinemie (ook wel histidinurie genaamd) is een zeldzame die autosomaal recessief overerft. De aandoening wordt veroorzaakt door een tekort van het enzym . Histidase is noodzakelijk voor het metabolisme van het aminozuur histidine. In België wordt de aandoening opgespoord door de hielprik (Guthrie-test), in Nederland wordt deze ziekte niet onderzocht via de hielprik.ze ziekte niet onderzocht via de hielprik.
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| rdfs:comment |
Histidinemia is a rare autosomal recessive … Histidinemia is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of the amino acid histidine. Although originally thought to be linked to multiple developmental disorders histidinemia is now accepted as a relatively benign disorder, leading to a reduction in the prevalence of neonatal screening procedures.evalence of neonatal screening procedures.
, Histidinemie (ook wel histidinurie genaamd … Histidinemie (ook wel histidinurie genaamd) is een zeldzame die autosomaal recessief overerft. De aandoening wordt veroorzaakt door een tekort van het enzym . Histidase is noodzakelijk voor het metabolisme van het aminozuur histidine. In België wordt de aandoening opgespoord door de hielprik (Guthrie-test), in Nederland wordt deze ziekte niet onderzocht via de hielprik.ze ziekte niet onderzocht via de hielprik.
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Histidinemie
, Histidinemia
, Istidinemia
|
