Carbamoyl phosphate synthetase I deficiency

http://dbpedia.org/resource/Carbamoyl_phosphate_synthetase_I_deficiency an entity of type: Thing

Carbamoyl phosphate synthetase I deficiency (CPS I deficiency) is an autosomal recessive metabolic disorder that causes ammonia to accumulate in the blood due to a lack of the enzyme carbamoyl phosphate synthetase I. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. rdf:langString
Недостаточность карбамоилфосфатсинтетазы I — аутосомно-рецессивное заболевание, возникающее в результате врожденного дефекта цикла мочевины, приводящего к гипераммониемии. Существует две основные формы: летальная неонатальная и поздняя. Причиной заболевания является наличие гомозиготной или двух гетерозиготных мутаций в гене, кодирующем карбамоилфосфатсинтетазу I (CPS1) на хромосоме 2q35. rdf:langString
rdf:langString Carbamoyl phosphate synthetase I deficiency
rdf:langString Недостаточность карбамоилфосфатсинтетазы I
rdf:langString Carbamoyl phosphate synthetase I deficiency
rdf:langString Carbamoyl phosphate synthetase I deficiency
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rdf:langString CPS I deficiency
rdf:langString Carbamoyl phosphate synthetase I deficiency (CPS I deficiency) is an autosomal recessive metabolic disorder that causes ammonia to accumulate in the blood due to a lack of the enzyme carbamoyl phosphate synthetase I. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
rdf:langString Недостаточность карбамоилфосфатсинтетазы I — аутосомно-рецессивное заболевание, возникающее в результате врожденного дефекта цикла мочевины, приводящего к гипераммониемии. Существует две основные формы: летальная неонатальная и поздняя. Причиной заболевания является наличие гомозиготной или двух гетерозиготных мутаций в гене, кодирующем карбамоилфосфатсинтетазу I (CPS1) на хромосоме 2q35.
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