Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency.

Abstract	Citrin is a mitochondrial membrane aspartate-glutamate carrier, and citrin deficiency causes both hyperammonaemia in adults (adult-onset type II citrullinaemia, CTLN2) and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), with metabolic derangements in gluconeogenesis, aerobic glycolysis, urea synthesis, UDP-galactose epimerase activity, and possibly fatty acid synthesis and utilization. Through neonatal screening and case review, four patients with NICCD who had an acylcarnitine profile during infancy were all found to have an elevation of free carnitine, C2-carnitine, and long-chain acylcarnitines. These metabolic abnormalities appeared after the rise of citrulline and bilirubin, but before the elevation of alanine aminotransferase and aspartate aminotransferase. Although the rise of free carnitine and acylcarnitines seems to be a benign condition, the sequential changes of these metabolic derangements may give clues to the pathogenesis of this interesting disorder.
Authors	Ni-Chung Lee, Yin-Hsiu Chien, Keiko Kobayashi, Takeyori Saheki, Huey-Ling Chen, Pao-Chin Chiu, Yen-Hsuan Ni, Mei-Hwei Chang, Wuh-Liang Hwu
Journal	Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 29 Issue 4 Pg. 551-5 (Aug 2006) ISSN: 1573-2665 [Electronic] United States
PMID	16736097 (Publication Type: Journal Article)
Chemical References	Calcium-Binding Proteins Membrane Transport Proteins Organic Anion Transporters acylcarnitine citrin Alanine Carnitine
Topics	Alanine (metabolism) Amino Acid Metabolism, Inborn Errors (diagnosis) Calcium-Binding Proteins (deficiency) Carnitine (analogs & derivatives, biosynthesis, metabolism) Cholestasis, Intrahepatic (etiology, metabolism) Humans Infant Infant, Newborn Mass Spectrometry (methods) Membrane Transport Proteins (chemistry) Models, Biological Neonatal Screening Organic Anion Transporters (deficiency) Time Factors

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