Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese ne
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CASE REPORT
Open Access
Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn Yiming Lin1†, Weihua Lin1†, Yanru Chen1, Chunmei Lin1, Zhenzhu Zheng1, Jianlong Zhuang2* and Qingliu Fu1*
Abstract Background: Primary carnitine deficiency (PCD) is an autosomal recessive disorder affecting the carnitine cycle and resulting in defective fatty acid oxidation. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder and one of the main causes of inherited neonatal cholestasis. Both PCD and NICCD are included in the current expanded newborn screening (NBS) targets. Case presentation: Targeted exome sequencing was performed on a Chinese proband, and Sanger sequencing was utilised to validate the detected mutations. The patient who was initially suspected to have PCD based on the NBS results presented with neonatal intrahepatic cholestasis and ventricular septal defect. Further investigations not only confirmed PCD but also revealed the presence of NICCD. Four distinct mutations were detected, including c.51C > G (p.F17L) and c.760C > T (p.R254X) in SLC22A5 as well as c.615 + 5G > A and IVS16ins3kb in SLC25A13. Conclusions: This is the first reported case of PCD and NICCD occurring in the same patient. The dual disorders in a newborn broaden our understanding of inherited metabolic diseases. Thus, this study highlighted the importance of further genetic testing in patients presenting with unusual metabolic screening findings. Keywords: Primary carnitine deficiency, Neonatal intrahepatic cholestasis caused by citrin deficiency, Newborn screening, Intrahepatic cholestasis, Ventricular septal defec
Background Primary carnitine deficiency (PCD, OMIM #212140) is an autosomal recessive disorder of fatty acid oxidation caused by mutations in the SLC22A5 gene [1]. PCD is characterized by an estimated prevalence of 1:40,000–1: 120,000 [2], with an extremely high frequency of 1:300 in the Faroe Islands [3]. Patients with PCD can suffer from skeletal or cardiac myopathy, muscle weakness, and hepatic encephalopathy [2]. Moreover, PCD patients have a lifetime risk of sudden death if left untreated [4]. * Correspondence: [email protected]; [email protected] † Yiming Lin and Weihua Lin contributed equally to this work. 2 Prenatal Diagnosis Center, Quanzhou Maternity and Children’s Hospital, 700 Fengze Street, Quanzhou 362000, Fujian Province, China 1 Neonatal Disease Screening Center, Quanzhou Maternity and Children’s Hospital, 700 Fengze Street, Quanzhou 362000, Fujian Province, China
PCD can be identified during newborn screening (NBS) by measuring free carnitine (C0) levels in dried blood spots [5]. Early diagnosis and treatment can prevent metabolic decompensation and possible death. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD, #OMIM 605814) is an autosomal recessive disorder caused by biallelic SLC25A13 mutations [6]. NICCD is a pan-ethnic disorder with a high prevalence in East Asian popu
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