Citrullinemia with an atypical presentation: Paroxysmal hypoventilation attacks

Citrullinemia type 1 (CTLN1) is a rare inherited urea cycle disorder, which resulted from the deficiency of argininosuccinate synthetase enzyme. We presented an infant who was hospitalized because of acute losses of tonus and cyanotic hypoventilation attacks lasting approximately 4-5min. The physica...

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Veröffentlicht in:	Journal of pediatric neurosciences 2018-04, Vol.13 (2), p.276-278
Hauptverfasser:	Öztürk, Zeynep, Hirfanoğlu, Tuğba, İnci, Aslı, Okur, İlyas, Koç, Esin, Tümer, Leyla, Arhan, Ebru, Aydın, Kürşad, Serdaroğlu, Ayşe
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino acids Ammonia Autism Case Report Electroencephalography Enzymes Epilepsy Genetic aspects Ligases Medical screening Metabolism Mutation NMR Nuclear magnetic resonance Patients Urea
Online-Zugang:	Volltext
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