Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency

Han, Lianshu; Wang, Fei; Wang, Yu; Ye, Jun; Qiu, Wenjuan; Zhang, Huiwen; Gao, Xiaolan; Gong, Zhuwen; Gu, Xuefan

doi:10.1016/j.ejmg.2014.08.001

Cited by 27 publications

(29 citation statements)

References 28 publications

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“…Further evaluations cannot be completed because of parental refusal to undergo genetic testing. Based in the gene analysis of case studies, there is no clear relationship between free carnitine level in plasma, OCTN2 genotype and disease severity at present 8) .…”

Section: Discussionmentioning

confidence: 98%

Systemic primary carnitine deficiency with hypoglycemic encephalopathy

Jun

Park

Kim

2016

Ann Pediatr Endocrinol Metab

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Acute hypoglycemia in children is not an uncommon disease that can be encountered in the Emergency Department. Most cases of childhood hypoglycemia are caused by ketotic hypoglycemia due to missed meals. Often, hypoketotic hypoglycemia can also occur, which suggests hyperinsulinemia or a defect in fatty acid oxidation. Carnitine is essential for long chain fatty acids transfer into mitochondria for oxidation. We present a case of systemic primary carnitine deficiency who presented with seizures due to hypoketotic hypoglycemia.

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Section: Discussionmentioning

confidence: 98%

Systemic primary carnitine deficiency with hypoglycemic encephalopathy

Jun

Park

Kim

2016

Ann Pediatr Endocrinol Metab

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“…Serum α-fetoprotein level was far beyond the reference range (Table 1) and the cardiac ultrasound revealed a ventricular septal defect (VSD) in the newborn. All four mutations have previously been described as pathogenic in patients with PCD or NICCD [12,13].…”

Section: Case Reportmentioning

confidence: 90%

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

Lin¹,

Lin²,

Chen³

et al. 2020

BMC Pediatr

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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.

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“…Patients with PCD show accumulation of fat in their liver and often they show hepatic encephalopathy, which is one of the major complications of advanced liver disease [ 50 , 54 ]. Furthermore in both diseases there are elevated liver enzymes like alanine transaminase (ALT) and aspartate transaminase (AST)—an indicator of liver injury [ 55 ]. A few cases in small children with PCD showed that liver size and enzymes were normalized after treatment with L-carnitine [ 52 , 56 , 57 ]…”

Section: Fatty Liver Disease and The Role Of L-carnitinementioning

confidence: 99%

The Importance of the Fatty Acid Transporter L-Carnitine in Non-Alcoholic Fatty Liver Disease (NAFLD)

et al. 2020

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L-carnitine transports fatty acids into the mitochondria for oxidation and also buffers excess acetyl-CoA away from the mitochondria. Thus, L-carnitine may play a key role in maintaining liver function, by its effect on lipid metabolism. The importance of L-carnitine in liver health is supported by the observation that patients with primary carnitine deficiency (PCD) can present with fatty liver disease, which could be due to low levels of intrahepatic and serum levels of L-carnitine. Furthermore, studies suggest that supplementation with L-carnitine may reduce liver fat and the liver enzymes alanine aminotransferase (ALT) and aspartate transaminase (AST) in patients with Non-Alcoholic Fatty Liver Disease (NAFLD). L-carnitine has also been shown to improve insulin sensitivity and elevate pyruvate dehydrogenase (PDH) flux. Studies that show reduced intrahepatic fat and reduced liver enzymes after L-carnitine supplementation suggest that L-carnitine might be a promising supplement to improve or delay the progression of NAFLD.

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Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency

Cited by 27 publications

References 28 publications

Systemic primary carnitine deficiency with hypoglycemic encephalopathy

Systemic primary carnitine deficiency with hypoglycemic encephalopathy

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

The Importance of the Fatty Acid Transporter L-Carnitine in Non-Alcoholic Fatty Liver Disease (NAFLD)

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