Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia

Adult-onset citrullinaemia type II (CTLN2) is a rare disease in Chinese patients. As a subtype of citrin deficiency (CD), it is an autosomal recessive disease related to the SLC25A13 mutation on chromosome 7q21.3. In this study, we report a case of CTLN2 presenting with paroxysmal altered consciousn...

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Autores principales:	Chen Pingrun, Gao Xin, Chen Bin, Zhang Yan
Formato:	article
Lenguaje:	EN
Publicado:	De Gruyter 2021
Materias:	hyperammonaemia liver transplantation adult-onset citrullinaemia type ii Medicine R
Acceso en línea:	https://doaj.org/article/b741951281a5463390f78154da4fd69e
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spelling	oai:doaj.org-article:b741951281a5463390f78154da4fd69e2021-12-05T14:10:54ZAdult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia2391-546310.1515/med-2021-0235https://doaj.org/article/b741951281a5463390f78154da4fd69e2021-03-01T00:00:00Zhttps://doi.org/10.1515/med-2021-0235https://doaj.org/toc/2391-5463Adult-onset citrullinaemia type II (CTLN2) is a rare disease in Chinese patients. As a subtype of citrin deficiency (CD), it is an autosomal recessive disease related to the SLC25A13 mutation on chromosome 7q21.3. In this study, we report a case of CTLN2 presenting with paroxysmal altered consciousness and refractory hyperammonaemia. The diagnosis was finally confirmed by gene analysis. The patient recovered after liver transplantation. It can be learned from this case that CD should be considered in patients with refractory hyperammonaemia and paroxysmal mental disorder without a history of liver disease.Chen PingrunGao XinChen BinZhang YanDe Gruyterarticlehyperammonaemialiver transplantationadult-onset citrullinaemia type iiMedicineRENOpen Medicine, Vol 16, Iss 1, Pp 455-458 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	hyperammonaemia liver transplantation adult-onset citrullinaemia type ii Medicine R
spellingShingle	hyperammonaemia liver transplantation adult-onset citrullinaemia type ii Medicine R Chen Pingrun Gao Xin Chen Bin Zhang Yan Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia
description	Adult-onset citrullinaemia type II (CTLN2) is a rare disease in Chinese patients. As a subtype of citrin deficiency (CD), it is an autosomal recessive disease related to the SLC25A13 mutation on chromosome 7q21.3. In this study, we report a case of CTLN2 presenting with paroxysmal altered consciousness and refractory hyperammonaemia. The diagnosis was finally confirmed by gene analysis. The patient recovered after liver transplantation. It can be learned from this case that CD should be considered in patients with refractory hyperammonaemia and paroxysmal mental disorder without a history of liver disease.
format	article
author	Chen Pingrun Gao Xin Chen Bin Zhang Yan
author_facet	Chen Pingrun Gao Xin Chen Bin Zhang Yan
author_sort	Chen Pingrun
title	Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia
title_short	Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia
title_full	Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia
title_fullStr	Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia
title_full_unstemmed	Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia
title_sort	adult-onset citrullinaemia type ii with liver cirrhosis: a rare cause of hyperammonaemia
publisher	De Gruyter
publishDate	2021
url	https://doaj.org/article/b741951281a5463390f78154da4fd69e
work_keys_str_mv	AT chenpingrun adultonsetcitrullinaemiatypeiiwithlivercirrhosisararecauseofhyperammonaemia AT gaoxin adultonsetcitrullinaemiatypeiiwithlivercirrhosisararecauseofhyperammonaemia AT chenbin adultonsetcitrullinaemiatypeiiwithlivercirrhosisararecauseofhyperammonaemia AT zhangyan adultonsetcitrullinaemiatypeiiwithlivercirrhosisararecauseofhyperammonaemia
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Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia

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