carnitine deficiency
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Nutrients ◽  
2022 ◽  
Vol 14 (2) ◽  
pp. 343
Author(s):  
Shota Matsufuji ◽  
Tetsuo Shoji ◽  
Suhye Lee ◽  
Masao Yamaguchi ◽  
Mari Nishimura ◽  
...  

Carnitine deficiency is prevalent in patients undergoing hemodialysis, and it could result in lowered muscle strength. So far, the effect of treatment with levocarnitine on lower limb muscle strength has not been well described. This observational study examined the association between treatment with levocarnitine with the change in knee extensor strength (KES) in hemodialysis patients. Eligible patients were selected from the participants enrolled in a prospective cohort study for whom muscle strength was measured annually. We identified 104 eligible patients for this analysis. During the one-year period between 2014 to 2015, 67 patients were treated with intravenous levocarnitine (1000 mg per shot, thrice weekly), whereas 37 patients were not. The change in KES was significantly higher (p = 0.01) in the carnitine group [0.02 (0.01–0.04) kgf/kg] as compared to the non-carnitine group [−0.02 (−0.04 to 0.01) kgf/kg]. Multivariable-adjusted regression analysis showed the positive association between the change in KES and the treatment with levocarnitine remained significant after adjustment for the baseline KES and other potential confounders. Thus, treatment with intravenous levocarnitine was independently and positively associated with the change in KES among hemodialysis patients. Further clinical trials are needed to provide more solid evidence.


2022 ◽  
Vol 12 ◽  
Author(s):  
Xia Li ◽  
Jun He ◽  
Ling He ◽  
Yudong Zeng ◽  
Xuzhen Huang ◽  
...  

Neonatal inherited metabolic disorders (IMDs) are closely associated with early neonatal death and abnormal growth and development. Increasing attention has been paid to IMDs because of their high incidence and diversity. However, there are no reports about the incidence of IMDs in Changsha, China. Therefore, we retrospectively analyzed the screening results of neonates to evaluate the characteristics of IMDs in the area. From January 2016 to December 2020, 300,849 neonates were enrolled for expanded newborn screening by tandem mass spectrometry in the Neonatal Disease Screening Center of the Changsha Hospital for Maternal & Child Health Care. Newborns with mild initial results were recalled for repeated tests; if the second test was still positive, the patient was referred for confirmatory tests. A total of 71 confirmed cases were identified in our study, with an incidence rate of 1:4,237. There were 28 cases of amino acid metabolic disorders, representing 39.44% of the IMDs diagnosed, with an incidence rate of 1:10,745. Twelve newborns were diagnosed with organic acid metabolic disorders, accounting for 16.66% of IMDs, with an incidence rate of 1:25,071. There were 31 cases of fatty acid oxidation disorders, representing 43.05% of IMDs, with an incidence rate of 1:9,705. Overall, 14 types of IMDs were found in Changsha. The most common disorders in the region were primary carnitine deficiency, hyperphenylalaninemia and short-chain acyl-CoA dehydrogenase deficiency. Their incidence rate is respectively 1:13,675, 1:16,714 and 1:42,978. The mutations in PAH, SLC22A5, and ACADS are the leading causes of IMDs in this area. This study demonstrates the importance of utilizing MS/MS in IMD screening for early diagnosis and treatment. This strategy may be used for prenatal genetic counseling to avoid irreversible growth and intellectual development disorders in children.


Author(s):  
Loek L. Crefcoeur ◽  
Gepke Visser ◽  
Sacha Ferdinandusse ◽  
Frits A. Wijburg ◽  
Mirjam Langeveld ◽  
...  

2021 ◽  
Vol 2 (4) ◽  
pp. 101-104
Author(s):  
E. V. Baliazina ◽  
A. Y. Stepanova ◽  
V. A. Baliazin

As an introduction, the article presents a small review of the literature devoted to the problem of clinical variants of postovoid syndrome and, in particular, headaches and back pain. There are 6 cases with various headaches and 1 case with back pain in patients with cystic transformation of the pineal gland after a verified COVID-19 infection. All patients were diagnosed with melatonin, L‑arginine and L‑carnitine deficiency before treatment. After the replacement therapy, the pain syndrome was stopped in all patients within 10 days, and a month after the start of treatment, the indicators of melatonin, L‑arginine and l‑carnitine returned to the reference values of the norm.


Author(s):  
Varsha Gajbhiye ◽  
Shubhangi Patil ◽  
Sarika Gaikwad ◽  
Sushma Myadam

Dilated cardiomyopathy (DCM) is known to have ventricular dilatation and dysfunction in  myocardium. Primary carnitine deficiency (PCD) is a not common but a reversible autosomal recessive phenomenon with supplementation of carnitine. Case presentation- 11-month male child was brought with complain of fever, cough, cold since 7 days and increased work of breathing for 15 days.  2 D echo was done suggestive of dilated cardiomyopathy. His initial investigations; chest Xray revealed significant cardiomegaly electrocardiography, (ECG) showed prolonged QT interval fraction. Patient was treated with syrup carnitine syrup empirically, as there is no way to determine a fatty acid oxidation profile. Repeated 2D echocardiogram (2 D ECHO) was suggestive of recovery. Conclusions: Carnitine deficiency could be the cause of  cardiomyopathy and so treatment of carnitine supplementation can be considered empirically to avoid life-threatening complication related to cardiomyopathy.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Yiming Lin ◽  
Bangbang Lin ◽  
Yanru Chen ◽  
Zhenzhu Zheng ◽  
Qingliu Fu ◽  
...  

Abstract Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited. This study aimed to investigate the biochemical and genetic characteristics of patients with PCD detected through NBS. Results A total of 548 247 newborns were screened for PCD between January 2014 and June 2021; 1714 newborns with low free carnitine (C0) levels were called back and 49 patients were diagnosed with PCD. The latest incidence rate in Quanzhou, China, was estimated to be 1 in 11 189 newborns. NBS results showed that the 49 patients had varying degrees of decreased C0 levels, whereas seven patients exhibited normal C0 levels during the recall review. All patients harbored biallelic pathogenic variants of the SLC22A5 gene. Nineteen distinct SLC22A5 variants were detected in these 49 patients, and most of the detected variants were clustered in exons 1, 4, and 7. The top eight variants had an allele frequency of 86.73%. The most common variant was c.760C > T (p.R254*) with an allele frequency of 31.63%, followed by c.51C > G (p.F17L) (17.35%) and c.1400C > G (p.S467C) (16.33%). The C0 level of patients with the N/N genotype was significantly lower than that of the M/M group. The C0 levels of patients with genotypes of R254*/R254* and R254*/F17L were far lower than those of patients with the R254*/S467C genotype. Conclusions This study presented more than 500,000 NBS data with the latest incidence of 1:11 189 in the Quanzhou area. The SLC22A5 variant spectrum in the selected southern Chinese population has been updated. Patients with null variants were associated with low C0 levels. Combining NBS with genetic testing is critical to improve screening efficiency because patients with PCD may have normal C0 levels during NBS and recall review.


Chemotherapy ◽  
2021 ◽  
Author(s):  
Noriyoshi Iriyama ◽  
Katsuhiro Miura ◽  
Yoshihito Uchino ◽  
Hiromichi Takahashi ◽  
Masaru Nakagawa ◽  
...  

Background: Some chemotherapeutic agents cause carnitine deficiency, which confers general fatigue; however, there is no study on carnitine deficiency in patients with chronic myeloid leukemia (CML) during tyrosine kinase inhibitor (TKI) therapy. Objective: This study investigated carnitine concentrations in patients with CML treated with TKIs. Method: This study included patients with well-controlled CML. Total carnitine and free carnitine concentrations were evaluated using the enzyme cycling method. The Brief Fatigue Inventory (BFI) and Cancer Fatigue Scale (CFS) were used to assess general fatigue developed during TKI therapy. Results: Fifty-five patients on TKIs were included; 12 (21.8%) had low free carnitine concentrations. Free carnitine concentrations were higher in men than in women. Younger age was closely associated with lower free carnitine concentrations. TKI type, TKI dose, treatment response, or therapy duration were not associated with free carnitine concentrations. None of the scores (the global fatigue score with the BFI and CFS score) correlated with carnitine concentrations. Concentrations of free carnitine in the treatment-free remission group were slightly higher than those in the TKI group, with only 9.1% having a low concentration of free carnitine. Conclusion: Carnitine deficiency is probably not a major cause of general fatigue, but may occur in patients with CML receiving TKIs.


2021 ◽  
Author(s):  
Yiming Lin ◽  
Bangbang Lin ◽  
Yanru Chen ◽  
Zhenzhu Zheng ◽  
Qingliu Fu ◽  
...  

Abstract Background: Primary carnitine deficiency (PCD) is an autosomal recessive disorder of the carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited. This study aimed to investigate the biochemical and genetic characteristics of patients with PCD detected by NBS.Results: A total of 548,247 newborns were screened for PCD between January 2014 and June 2021, 1714 newborns had low free carnitine (C0) levels were called back and forty-nine patients were diagnosed with PCD. The latest incidence rate in Quanzhou, China was estimated to be 1 in 11,189 newborns. NBS results showed that all patients had varying degrees of decreased C0 levels, while seven patients exhibited normal C0 levels during recall review. All patients harbored biallelic pathogenic variants in the SLC22A5 gene. Nineteen distinct SLC22A5 variants were detected in the 49 patients, most of the detected variants were clustered in exons 1, 4, and 7. The top eight variants together had an allele frequency of 86.73%. The most common variant was c.760C>T (p.R254*) with an allele frequency of 31.63%, followed by c.51C>G (p.F17L) (17.35%) and c.1400C>G (p.S467C) (16.33%). The C0 level of patients with N/N genotype was significantly lower than that of M/M group. The C0 level of patients with genotypes of R254*/R254* and R254*/F17L were far lower than patients with genotype of R254*/S467C.Conclusions: This study presented more than 500,000 NBS data with the latest incidence of 1:11,189 in Quanzhou area. The SLC22A5 variant spectrum in the selected southern Chinese population was updated. Patients with null variants were associated with low C0 levels. It is necessary to combine genetic testing to improve screening efficiency due to PCD patients may have normal C0 levels during NBS and recall review.


Author(s):  
Catherine A. Ziats ◽  
William B. Burns ◽  
Matt L. Tedder ◽  
Laura Pollard ◽  
Tim Wood ◽  
...  

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