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- Title
Citrin deficiency: A rare but important metabolic disorder to consider in infants with faltering growth and hyperbilirubinaemia.
- Authors
Stapleton, Ciara; Boulter, Emily; Balasubramaniam, Shanti
- Abstract
The article describes the case of a male infant with faltering growth, jaundice and liver dysfunction and was diagnosed with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), an autosomal recessive disorder. It highlights improvements on the patient following dietary intervention including resolution of his jaundice and biochemical and metabolic abnormalities and weight gain. Clinical manifestations of citrin deficiency and effectiveness of dietary management are discussed.
- Subjects
GENETIC disorders in children; CHOLESTASIS in newborn infant; JAUNDICE; LIVER abnormalities; DIETARY management; DIET in disease; BIOCHEMICAL genetics; METABOLIC disorders in children; METABOLIC disorder diagnosis; CALCIUM-binding proteins; DIFFERENTIAL diagnosis; GROWTH disorders; HYPERBILIRUBINEMIA; METABOLIC disorders; HEALTH outcome assessment; PROTEINS
- Publication
Journal of Paediatrics & Child Health, 2017, Vol 53, Issue 12, p1229
- ISSN
1034-4810
- Publication type
case study
- DOI
10.1111/jpc.13670