A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency

2003 ◽  
Vol 162 (5) ◽  
pp. 317-322 ◽  
Author(s):  
Toshihiro Ohura ◽  
Keiko Kobayashi ◽  
Daiki Abukawa ◽  
Yusaku Tazawa ◽  
Jun-ichiro Aikawa ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Intrahepatic Cholestasis ◽  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
Citrin Deficiency

scholarly journals Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with SLC25A13 Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report

Medicina ◽  
2021 ◽  
Vol 57 (10) ◽  
pp. 1032
Author(s):  
Shu-Wei Hu ◽  
Wen-Li Lu ◽  
I-Ping Chiang ◽  
Shu-Fen Wu ◽  
Chung-Hsing Wang ◽  
...  
Keyword(s):  
Case Report ◽  
Newborn Screening ◽  
Hepatic Steatosis ◽  
Genetic Study ◽  
Intrahepatic Cholestasis ◽  
Young Infant ◽  
Amino Acid Profile ◽  
Rare Case Report ◽  
Citrin Deficiency ◽  
Prolonged Jaundice

Background: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a rare autosomal recessive disease. The incidence of citrin deficiency is estimated between 1/10,000 and 1/20,000 in Taiwan. Case report: This report describes a case of a 42 day old female infant who suffered from prolonged jaundice, poor weight gain, and anemia. The initial total/direct bilirubin levels were 8.1/3.11 mg/dL. Liver biopsy was performed at 47 days old. The pathology revealed lobules marked with macrovesicular and microvesicular fatty metamorphosis. The serum amino acid profile showed elevated levels of threonine, methionine, citrulline, and arginine. Newborn screening disclosed normal results, but the genetic study revealed SLC25A13 mutation 851–854 del and 615 + 5G > A. The genetic study of her parents showed that the father carried the SLC25A13 mutation 851–854 del and the mother carried the SLC25A13 mutation 615 + 5G > A. Treatment with ursodeoxycholic acid decreased the bilirubin levels to a normal range at the age of 5 months. Conclusion: This report illustrates that hepatic steatosis is a feature of NICCD. For every young infant patient who develops cholestasis, the pediatrician must consider NICCD as a differential diagnosis even if newborn screening shows normal findings.

Living with an inborn error of metabolism detected by newborn screening—Parents’ perspectives on child development and impact on family life

2013 ◽  
Vol 37 (2) ◽  
pp. 189-195 ◽  
Author(s):  
Gwendolyn Gramer ◽  
Gisela Haege ◽  
Esther M. Glahn ◽  
Georg F. Hoffmann ◽  
Martin Lindner ◽  
...  
Keyword(s):  
Child Development ◽  
Newborn Screening ◽  
Family Life ◽  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
Impact On Family

scholarly journals Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry

2017 ◽  
Author(s):  
Hiroko Shigetomi ◽  
Toju Tanaka ◽  
Masayoshi Nagao ◽  
Hiroyuki Tsutsumi
Keyword(s):  
Mass Spectrometry ◽  
Amino Acids ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Intrahepatic Cholestasis ◽  
Total Amino Acid ◽  
Tandem Mass ◽  
Detection And Diagnosis ◽  
Citrin Deficiency ◽  
Total Amino Acids

Citrullinemia is the earliest identifiable biochemical abnormality in neonates with intrahepatic cholestasis due to a citrin deficiency (NICCD) and it has been included in newborn screening panels using tandem mass spectrometry. However, only one neonate was positive among 600,000 infants born in Sapporo city and Hokkaido, Japan between 2006 and 2017. We investigated 12 neonates with NICCD who were initially considered normal in newborn mass screening (NBS) by tandem mass spectrometry, but were later diagnosed with NICCD by DNA tests. Using their initial NBS data, we examined citrulline concentrations and ratios of citrulline to total amino acids. Although their citrulline values exceeded the mean of the normal neonates and 80 % of them surpassed +3SD, all were below the cutoff of 40 nmol/mL. The ratios of citrulline to total amino acids significantly elevated in patients with NICCD compared to the control. By evaluating two indicators simultaneously, we could select about 80% of patients with missed NICCD. Introducing an estimated index comprising citrulline values and citrulline to total amino acid ratios could assure NICCD detection by NBS.

Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency

2019 ◽  
Vol 43 (3) ◽  
pp. 467-477 ◽  
Author(s):  
Yiming Lin ◽  
Yaru Liu ◽  
Lin Zhu ◽  
Kaixing Le ◽  
Yuyan Shen ◽  
...  
Keyword(s):  
Genetic Screening ◽  
Intrahepatic Cholestasis ◽  
Citrin Deficiency

L’omocistinuria classica in età pediatrica

2021 ◽  
Vol 24 (10) ◽  
pp. 309-313
Author(s):  
Aldo Ravaglia ◽  
Giulia Costagliola ◽  
Marco Spada
Keyword(s):  
Connective Tissue ◽  
Early Diagnosis ◽  
Newborn Screening ◽  
Developmental Delay ◽  
Inborn Error ◽  
Specific Therapy ◽  
Cystathionine Beta Synthase ◽  
Expanded Newborn Screening

Classical homocystinuria is an inborn error of methionin metabolism. It is characterized by an accumulation of homocysteine, due to a deficiency of the enzyme involved in its metabolism, namely cystathionine beta synthase. If not treated, the increase in homocysteine leads to a multisystem syndrome that involves connective tissue, nervous and vascular systems with a predisposition to thromboembolism and developmental delay in childhood. An early diagnosis allows the specific therapy to be promptly started and prevents the classical manifestations of the disease. Since 2016 in Italy homocystinuria detection has been included in the expanded newborn screening. However, it is important not to forget this disease, because of its severe consequences of an untreated condition on the quality and expectancy of life.

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