Screening and Diagnosis of Children with Primary Carnitine Deficiency in Zhejiang Province, China
نویسندگان
چکیده
Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder, caused by deficiency in the plasma membrane carnitine transporter. In this report, we aimed to describe the diagnosis and treatment of 12 PCD patients. Blood spots were collected from the children, and analysed using liquid chromatography-mass spectrometry (LC-MS). Newborns and children who had repeated lower dried blood spot free carnitine levels than the cut-off value will be recalled. Children who had positive recalled tests were subjected to confirmatory tests including urinary organic acid analysis with gas chromatographymass spectrometry (GC-MS), urine ketone, glucose, ammonia, lactate, liver and kidney function, and molecular analysis, etc. Three children were diagnosed to have PCD clinically, and 9 by neonatal screening. One mother was also diagnosed to have PCD. Thirteen SLC22A5 gene mutations were found in these patients. The 9 patients identified by neonatal screening were asymptomatic at diagnosis, and had normal growth and development during follow-up. Two of the three clinically diagnosed patients turned normal after treatment, and the other showed retarded growth compared to his normal peers. PCD incidence is not that rare in China. It is crucial to increase the coverage of newborn screening for early diagnosis of PCD.
منابع مشابه
Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China
BACKGROUND Tandem mass spectrometry (MS/MS) has been available in China for 8 years. This technique makes it possible to screen for a wide range of previously unscreened inborn errors of metabolism (IEM) using a single test. This 3-year pilot study investigated the screening, diagnosis, treatment and outcomes of IEM in symptomatic infants and children. METHODS All children encountered in the ...
متن کاملDiagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China
BACKGROUND Glutaric aciduria type I (GA I; MIM 231670) is a rare autosomal recessive disorder resulting from glutaryl-CoA dehydrogenase deficiency. This article reports our experience in the diagnosis, treatment and outcome of GA I patients in Zhejiang Province, China. MATERIAL/METHODS A total of 129,415 newborns (accounting for approximately one-tenth of the annual births in Zhejiang Provinc...
متن کاملThe survey of serum retinol of the children aged 0~4 years in Zhejiang Province, China
BACKGROUND Vitamin A can have a positive impact on growth and development of children, but vitamin A deficiency (VAD) was found to be a public health problem in Zhejiang Province, China in 1998. There have been no studies on this topic in Zhejiang Province recently. This study was designed to evaluate the serum retinol levels of children aged 0~4 years in Zhejiang Province, southeast China. Thi...
متن کاملTitle page Screening for inborn errors of metabolism in high risk children: a three-year study in Zhejiang Province, China
متن کامل
The role of sirolimus in proteinuria in diabetic nephropathy rats
Objective(s): The aim of this study was to observe the impact of sirolimus on proteinuria in streptozotocin (STZ) induced diabetic rats. Materials and Methods: Rats were given a single injection of STZ to induce diabetic rat model. Rats’ 24 hr urine was collected to test, urinary and the kidney tissues were harvested at the 8th and 20th weeks, respectively. Podocyte morphological changes were e...
متن کامل