Abstract
Citrin deficiency can manifest in newborns or infants as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The paper presents a case of Polish NICCD patient presenting with low birth weight, failure to thrive, prolonged cholestatic jaundice with coagulopathy and hypoalbuminemia with normal results of MS/MS newborn screening but with high blood citrulline level observed at 3 months of age. Unreported findings included N-hypoglycosylation and increased serum very-long-chain fatty acids (VLCFA), probably secondary to liver impairment. Final diagnosis was established based on whole-exome sequencing (WES) analysis.
MeSH terms
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Blood Coagulation Disorders / complications*
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Blood Coagulation Disorders / drug therapy
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Cholagogues and Choleretics / therapeutic use
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Cholestasis, Intrahepatic / diagnosis*
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Cholestasis, Intrahepatic / drug therapy
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Cholestasis, Intrahepatic / etiology
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Citrulline / blood
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Citrullinemia / complications*
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Citrullinemia / diagnosis
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Citrullinemia / drug therapy
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Early Diagnosis
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Exome Sequencing
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Follow-Up Studies
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Humans
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Hypoalbuminemia / complications*
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Hypoalbuminemia / drug therapy
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Infant
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Infant, Low Birth Weight
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Infant, Newborn
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Jaundice, Obstructive / diagnosis*
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Jaundice, Obstructive / drug therapy
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Jaundice, Obstructive / etiology
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Male
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Neonatal Screening
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Retrospective Studies
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Tandem Mass Spectrometry
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Treatment Outcome
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Ursodeoxycholic Acid / therapeutic use
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Vitamins / therapeutic use
Substances
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Cholagogues and Choleretics
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Vitamins
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Citrulline
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Ursodeoxycholic Acid
Supplementary concepts
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Neonatal-onset citrullinemia type 2