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Type II Citrullinaemia (Citrin Deficiency) in a Neonate with Hypergalactosaemia Detected by Mass Screening
- Source :
- Journal of Inherited Metabolic Disease. 25:71-76
- Publication Year :
- 2002
- Publisher :
- Wiley, 2002.
-
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+1GA mutation. This case suggests that SLC25A13 mutant should be suspected in neonatal patients with hypergalactosaemia of unknown cause.
- Subjects :
- Galactosemias
medicine.medical_specialty
Argininosuccinate synthase
medicine.disease_cause
Mitochondrial Membrane Transport Proteins
Mitochondrial Proteins
Liver disease
Internal medicine
Genetics
medicine
Humans
Mass Screening
Genetics (clinical)
Mass screening
Citrullinemia
Mutation
biology
Galactosemia
Infant, Newborn
Galactose
Membrane Transport Proteins
medicine.disease
Neonatal hepatitis
Endocrinology
Citrin
biology.protein
Female
Subjects
Details
- ISSN :
- 01418955
- Volume :
- 25
- Database :
- OpenAIRE
- Journal :
- Journal of Inherited Metabolic Disease
- Accession number :
- edsair.doi.dedup.....7b5669a63429112b43b7a614b845bb1a