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

Journal of Inherited Metabolic Disease

Volumn 25, Issue 1, 2002, Pages 71-76

  Naito, E ^a   Ito, M ^a   Matsuura, S ^a   Yokota, I ^a   Saijo, T ^a   Ogawa, Y ^a   Kitamura, S ^a   Kobayashi, K ^b   Saheki, T ^b   Nishimura, Y ^c   Sakura, N ^c   Kuroda, Y ^a  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b KAGOSHIMA UNIVERSITY   (Japan)

^c HIROSHIMA UNIV SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININOSUCCINATE SYNTHASE; CITRULLINE; DNA;

ARTICLE; CASE REPORT; CITRULLINEMIA; CLINICAL FEATURE; COMORBIDITY; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA DETERMINATION; ENZYME DEFECT; FEMALE; GALACTOSEMIA; GENE MUTATION; HOMOZYGOSITY; HUMAN; MASS SCREENING; NEWBORN; NEWBORN HEPATITIS; NEWBORN SCREENING; ONSET AGE;

CITRULLINEMIA; FEMALE; GALACTOSE; GALACTOSEMIAS; HUMANS; INFANT, NEWBORN; MASS SCREENING; MEMBRANE TRANSPORT PROTEINS; MITOCHONDRIAL PROTEINS;

EID: 0036215646     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1015198103395     Document Type: Article

References (12)

1. Neonatal hepatitis
2. A search for the primary abnormality in adult-onset type II citrullinemia
3. Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia
4. Pancreatic secretary trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia
5. The gene mutated in adult-onset type II citrullinemia encodes a putative mitochondrial carrier protein
6. Congenital porto-left renal venous shunt as a cause of galactosaemia
7. Neonatal presentation of adult-onset type II citrullinemia
8. Serum amino acid pattern of type II citrullinemic patients and effect of oral administration of citrulline
9. Hereditary disorders of the urea cycle in man: Biochemical and molecular approaches
10. Infantile cholestatic jaundice associated with adult-onset type II citrullinemia
11. Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy
12. Identification of two novel mutations in SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia