Mutations in SLC22A5 result in primary carnitine deficiency (PCD), a disorder that manifests with cardiac, skeletal, or metabolic symptoms. We hereby describe two novel mutations in SLC22A5 in two Lebanese families associated exclusively with a cardiac phenotype. The frequency of the cardiac, ...
We present a rare case in which rotavirus gastroenteritis led to sequential diagnosis of acute hepatitis and systemic primary carnitine deficiency (CDSP) in a 1-year-old girl. The patient's symptoms (hypoglycemia, hepatomegaly, and elevated levels of serum transaminases and creatinine kinase) ...
The prevalence of primary carnitine deficiency (PCD) in the Faroe Islands is the highest reported in the world (1:300). Serious symptoms related to PCD, e.g. sudden death, have previously only been associated to the c.95A > G/c.95A > G genotype in the Faroe Islands. We report and...
Although the diagnosis of a primary carnitine deficiency is usually based on a very low level of free and total carnitine (free carnitine: 1-5 μM, normal 20-55 μM) (Longo et al. 2006), we detected a patient via newborn screening with a total carnitine level 67 % of the normal val...
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Primary carnitine deficiency (OMIM 212140) is an autosomal recessive disorder of fatty acid oxidation due to the lack of functional OCTN2 carnitine transporters. Carnitine is required for the transfer of long-chain fatty acids from the cytoplasm to the mitochondrial matrix for their oxidation [1]....
Article: Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts
In the Faroe Islands, several adult patients suffered sudden death from primary carnitine deficiency leading to the implementation of a nationwide population screening (performed after 2 months of age) in addition to universal neonatal screening. While most affected infants can be identified at birth,...
ency: A Case Report MRI Findings in Encephalopathy with Primary Carnitine Deficiency: A Case ReportMRI Findings in Encephalopathy with Primary Carnitine Deficiency: A Case Reportdoi:10.1111/jon.12102MRIencephalopathyprimary carnitine deficiencyBACKGROUND AND PURPOSEWe presented MRI and DWI findings of a ...
Primary carnitine deficiencySLC22A5Background and aims Primary carnitine deficiency (PCD) is an autosomal recessive disease caused by functional defects in the carnitine transporter OCTN2 due to mutations in SLC22A5. Here, we aimed to understand the incidence, clinical, biochemical, and molecular ...