Early cirrhosis in a patient with type I citrullinaemia (CTLN1)

A 17‐month‐old girl with type I classical citrullinaemia (CTLN1) presenting with early cirrhosis and unusual ultrastructural features of the liver is reported. The patient is homozygous for a splicing mutation in intron 15 of the argininosuccinate synthase gene.

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of inherited metabolic disease 2004-01, Vol.27 (4), p.541-542
Hauptverfasser:	Güçer, Ş., Aşan, E., Atilla, P., Tokatl, A., Çağlar, M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Argininosuccinate Synthase - deficiency Argininosuccinate Synthase - genetics Biological and medical sciences Citrullinemia - complications Citrullinemia - genetics Citrullinemia - pathology Feeding. Feeding behavior Female Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Homozygote Humans Infant Introns - genetics Liver Cirrhosis - diagnosis Liver Cirrhosis - etiology Molecular and cellular biology Mutation RNA Splicing - genetics Vertebrates: anatomy and physiology, studies on body, several organs or systems
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Beschreibung
Zusammenfassung:	A 17‐month‐old girl with type I classical citrullinaemia (CTLN1) presenting with early cirrhosis and unusual ultrastructural features of the liver is reported. The patient is homozygous for a splicing mutation in intron 15 of the argininosuccinate synthase gene.
ISSN:	0141-8955 1573-2665
DOI:	10.1023/B:BOLI.0000037401.63596.de