Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency
Journal
Journal of Inherited Metabolic Disease
Journal Volume
29
Journal Issue
4
Pages
551-555
Date Issued
2006
Author(s)
Kobayashi K.
Saheki T.
Chiu P.-C.
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. ? SSIEM and Springer 2006.
SDGs
Other Subjects
acylcarnitine; alanine aminotransferase; aspartate aminotransferase; bilirubin; carnitine; citrulline; liver enzyme; alanine aminotransferase blood level; amino acid analysis; amino acid blood level; artificial milk; aspartate aminotransferase blood level; bilirubin blood level; breast feeding; case report; citrullinemia; clinical feature; controlled study; diet supplementation; disease course; gene deletion; heterozygosity; homozygosity; human; human tissue; inborn error of metabolism; infant; liver biopsy; liver function; medical record review; mutational analysis; newborn intrahepatic cholestasis caused by citrin deficiency; newborn screening; pathophysiology; review; time series analysis; Alanine; Amino Acid Metabolism, Inborn Errors; Calcium-Binding Proteins; Carnitine; Cholestasis, Intrahepatic; Humans; Infant; Infant, Newborn; Mass Spectrometry; Membrane Transport Proteins; Models, Biological; Neonatal Screening; Organic Anion Transporters; Time Factors
Type
review