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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Grünert, S. C. Schumann, A. Freisinger, P. Rosenbaum-Fabian, S. Schmidts, M. Mueller, A. J. Beck-Wödl, S. Haack, T. B. Schneider, H. Fuchs, H. Teufel, U. Gramer, G. Hannibal, L. Spiekerkoetter, U. |
| Abstract | Background Neonatal intrahepatic cholestasis caused by citrin deficiency (CD) is a rare inborn error of metabolism due to variants in the SLC25A13 gene encoding the calcium-binding protein citrin. Citrin is an aspartate-glutamate carrier located within the inner mitochondrial membrane. Case presentation We report on two siblings of Romanian-Vietnamese ancestry with citrin deficiency. Patient 1 is a female who presented at age 8 weeks with cholestasis, elevated lactate levels and recurrent severe hypoglycemia. Diagnosis was made by whole exome sequencing and revealed compound heterozygosity for the frameshift variant c.852_855del, p.Met285Profs*2 and a novel deletion c.(69 + 1_70–1)_(212 + 1_231–1)del in SLC25A13. The girl responded well to dietary treatment with a lactose-free, MCT-enriched formula. Her younger brother (Patient 2) was born 1 year later and also found to be carrying the same gene variants. Dietary treatment from birth was able to completely prevent clinical manifestation until his current age of 4.5 months. Conclusions As CD is a well-treatable disorder it should be ruled out early in the differential diagnosis of neonatal cholestasis. Due to the combination of hepatopathy, lactic acidosis and recurrent hypoglycemia the clinical presentation of CD may resemble hepatic mitochondrial depletion syndrome. |
| Related Links | https://bmcpediatr.biomedcentral.com/counter/pdf/10.1186/s12887-020-02409-x.pdf |
| Ending Page | 7 |
| Page Count | 7 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 14712431 |
| DOI | 10.1186/s12887-020-02409-x |
| Journal | BMC Pediatrics |
| Issue Number | 1 |
| Volume Number | 20 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2020-11-11 |
| Access Restriction | Open |
| Subject Keyword | Pediatrics Internal Medicine Citrin deficiency Neonatal cholestasis Hypoglycemia Newborn screening Urea cycle defect SLC25A13 |
| Content Type | Text |
| Resource Type | Case study |
| Subject | Pediatrics, Perinatology and Child Health |
| Journal Impact Factor | 2/2023 |
| 5-Year Journal Impact Factor | 2.4/2023 |
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