NICCDNeonatal Intrahepatic Cholestasis Caused by Citrin Deficiency
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The patient was first diagnosed with NICCD and placed on a lactose-free formula containing medium-chain triglycerides at 2.5 months of age.
PAH deficiency and NICCD are different autosomal recessive inborn errors.
This rare case provided two important points for pediatric physicians: (1) Citrin deficiency that can lead to secondary high Phe levels should be ruled out for HPA by MS/MS analysis, and (2) if the blood Phe and Phe/Tyr are persistently elevated when Cit level returns to normal after treatment in an NICCD patient, she/he may also have PAH deficiency, and a gene mutation analysis is recommended to confirm the diagnosis.