Chen H.-W.HUEY-LING CHENYEN-HSUAN NINI-CHUNG LEEYIN-HSIU CHIENWUH-LIANG HWUHuang Y.-T.Chiu P.-C.MEI-HWEI CHANG2021-01-042021-01-0420080277-2116https://www.scopus.com/inward/record.uri?eid=2-s2.0-56049093028&doi=10.1097%2fMPG.0b013e318162d96d&partnerID=40&md5=04f00266d7171541f6b426ace4863159https://scholars.lib.ntu.edu.tw/handle/123456789/537043OBJECTIVES: To identify facial and biochemical characteristics as early clinical features of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD). PATIENTS AND METHODS: Ten patients with diagnoses of NICCD by SLC25A13 mutation analysis in Taiwan were recruited. A Chubby Index was developed for objective measurement of their facial characteristics. Liver function profiles were analyzed and compared with data on neonatal hepatitis and biliary atresia. RESULTS: Chubby face was observed in early infancy in all 5 patients whose serial photographs were taken. A significant difference in the Chubby Index was seen between NICCD infants and healthy infants (1.331 ± 0.07 vs 1.068 ± 0.059; P < 0.05). NICCD is characterized by an aspartate aminotransferase alanine aminotransferase ratio of 2 or greater, a direct bilirubin total bilirubin ratio under 0.67, and a standard deviation score for ±-fetoprotein of 4 or greater, with respect to neonatal hepatitis and biliary atresia. Although chubby face, abnormal liver function profiles, and multiple amino acidemia gradually disappeared after age 1 year, an increase in hepatic echogenicity was observed in most patients in long-term follow-up. CONCLUSIONS: Our Chubby Index is an informative measurement of the facial characteristics of infants with NICCD. The chubby face features, along with an aspartate aminotransferase alanine aminotransferase ratio of 2 or greater, a direct bilirubin total bilirubin ratio under 0.67, and a standard deviation score for ±-fetoprotein of 4 or greater, may serve as useful clinical indicators for diagnosing NICCD early in infancy. ? 2008 by Lippincott Williams & Wilkins.[SDGs]SDG3alanine aminotransferase; alpha fetoprotein; aspartate aminotransferase; bilirubin; bilirubin glucuronide; alpha fetoprotein; bilirubin; calcium binding protein; carrier protein; eriodictyol 7 o glucoside; mitochondrial protein; organic anion transporter; SLC25A13 protein, human; aminoacidemia; article; bile duct atresia; chemical parameters; citrin deficiency; clinical article; clinical feature; controlled study; early diagnosis; face profile; gene mutation; human; infancy; intrahepatic cholestasis; liver function; mutational analysis; newborn; newborn disease; newborn hepatitis; priority journal; protein deficiency; Asian; blood; blood analysis; case control study; differential diagnosis; face; female; genetics; infant; liver function test; male; methodology; mutation; pathology; Taiwan; alpha-Fetoproteins; Asian Continental Ancestry Group; Bilirubin; Blood Chemical Analysis; Calcium-Binding Proteins; Case-Control Studies; Cholestasis, Intrahepatic; Diagnosis, Differential; Face; Female; Humans; Infant; Infant, Newborn; Liver Function Tests; Male; Membrane Transport Proteins; Mitochondrial Proteins; Mutation; Organic Anion Transporters; Taiwanjournal article10.1097/MPG.0b013e318162d96d186648712-s2.0-56049093028