Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.

Abstract:

:Adult-onset type II citrullinemia (CTLN2), characterized by a liver-specific deficiency of urea cycle enzyme, argininosuccinate synthetase, is caused by mutations in SLC25A13 that encodes a calcium binding mitochondrial solute carrier protein, citrin. Citrin deficiency causes not only CTLN2 but also neonatal intrahepatic cholestasis caused by citrin deficiency at neonatal period. Moreover citrin and its isoform aralar were found to be aspartate glutamate carrier. From the viewpoint of the metabolic functions of citrin as aspartate glutamate carrier in urea synthesis and NADH shuttle, symptoms of CTLN2 and neonatal intrahepatic cholestasis caused by citrin deficiency are analyzed.

journal_name

Metab Brain Dis

journal_title

Metabolic brain disease

authors

Saheki T,Kobayashi K,Iijima M,Nishi I,Yasuda T,Yamaguchi N,Gao HZ,Jalil MA,Begum L,Li MX

doi

10.1023/a:1021961919148

subject

Has Abstract

pub_date

2002-12-01 00:00:00

pages

335-46

issue

4

eissn

0885-7490

issn

1573-7365

journal_volume

17

pub_type

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