Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening.

Abstract

Type II citrullinaemia (CTLN2) is an adult- or late childhood-onset liver disease characterized by a liver-specific defect in argininosuccinate synthetase protein. The enzyme abnormality is caused by deficiency of the protein citrin, which is encoded by the SLC25A 13 gene. Until now, however, few cases with SLC25A13 mutations have been reported in children with liver disease. We describe an infant who presented with neonatal hepatitis in association with hypergalactosaemia detected by neonatal mass screening. DNA analysis of SLC25A13 revealed that the patient was homozygous for a IVS11+1G>A mutation. This case suggests that SLC25A13 mutant should be suspected in neonatal patients with hypergalactosaemia of unknown cause.

• Authors: E Naito, M Ito, S Matsuura, Yokota, T Saijo, Y Ogawa, S Kitamura, K Kobayashi, T Saheki, Y Nishimura, N Sakura, Y Kuroda
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 25 Issue 1 Pg. 71-6 (Feb 2002) ISSN: 0141-8955 [Print] United States
• PMID: 11999983 (Publication Type: Journal Article)

Chemical References

• Membrane Transport Proteins
• Mitochondrial Membrane Transport Proteins
• Mitochondrial Proteins
• SLC25A13 protein, human
• Galactose

Topics

• Citrullinemia (blood, complications, genetics, physiopathology)
• Female
• Galactose (blood)
• Galactosemias (blood, complications, genetics)
• Humans
• Infant, Newborn
• Mass Screening
• Membrane Transport Proteins (genetics)
• Mitochondrial Membrane Transport Proteins
• Mitochondrial Proteins (genetics)