Systemic carnitine deficiencyPrimary carnitine deficiency (PCD) is an autosomal recessive disorder of fatty-acid oxidation caused by deficiency in the plasma membrane carnitine transporter. Carnitine plays an essential part in the transfer of long-chain fatty acids across the inner mitochondrial membrane....
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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...
Carnitine uptake defect; CUD; Carnitine deficiency (systemic); Carnitine transporter defect; OCTN2 transporter deficiency Definition and Characteristics Primary carnitine deficiency (OMIM 212140) is an autosomal recessive disorder of fatty acid oxidation due to the lack of functional OCTN2 carnitine transpor...
Newborn screeningPrimary 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, ...
Article: Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts
She was initially considered to have a beta oxygenation defect or secondary carnitine deficiency caused by pivalic acid-containing antibiotics; however, repetitive carnitine analysis and free carnitine clearance measurement confirmed primary carnitine deficiency (carnitine transporter deficiency). Children with ...
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 12-year-old boy with...
H., Ye J., et al.: Phenotype and genotype variation in primary carnitine deficiency. Genet Med 2001; 3: 387-392.Wang Y, Korman SH, Ye J, Gargus JJ, Gutman A, Taroni F, Garavaglia B, Longo N (2001) Phenotype and genotype variation in primary carnitine deficiency. Genet Med 3:387–...
Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation characterized by hypoketotic hypoglycemia and skeletal and cardiac myopathy. It is caused by mutations in the sodium-dependent carnitine cotransporter OCTN2. The majority of natural mutations identified in this and oth...