Carnitine deficiency can be misdiagnosed as a progression of systemic muscle atrophy. Clinicians should be aware of this disorder and should consider periodically measuring carnitine levels, regardless of the patient's serum ammonium levels.Naohi Isse...
Accumulation of neurotoxic bilirubin due to a transient neonatal or persistent inherited deficiency of bilirubin glucuronidation activity can cause irreversible brain damage and death. Strategies to inhibit bilirubin production and prevent neurotoxicity in neonatal and adult settings seem promising. We evaluated...
Keywords: cancer; cachexia; EPA; HMB; creatine; carnitine 1. Introduction Cachexia is a common, related factor of malnutrition in patients with cancer [1]. Cancer cachexia is a multifactorial syndrome defined by an ongoing loss of skeletal muscle mass (with or without loss of fat mass) that ...
In 7 children with single episodes of Reye's syndrome serum (n=4), muscle (n=3) and liver (n=1) free carnitine levels were normal except for one slightly low serem level. Systemic carnitine deficiency may mimic "Reye's syndrome"; the episodes, some initiated by fasting, may be prevent...
Carnitine-acylcarnitine translocase deficiency: Identification of a novel molecular defect in a Bedouin patient Kazanovitz A, Moses SW, Hershkovitz E (2004) Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient... D Galron,OS Birk,A Kazanovitz...
Carnitine palmitoyl transferase type 1A (CPT 1A) deficiency is a rare metabolic disorder of fatty acid oxidation. The deficiency does not allow the breakdo... R Pol,S Janvekar,R Vanaki,... 被引量: 0发表: 2020年 Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns...
We report on the performance of whole-exome sequencing in members of a consanguineous family with a history of pediatric hypertrophic cardiomyopathy and sudden cardiac death, which led to the identification of a homozygous stop variant in the SLC22A5 gene, implicated in primary carnitine deficiency,...
Systemic and organ specific carnitine (CAR) deficiency: A possible cause of cardiomyopathy (CM) in man and syrian hamsters: V. Regitz, M.E. Tripp, D. Paulson and A.L. Shug. Department of Pediatrics, University Hospital and V.A. Hospital, Madison, Wisconsin, USA Available online 28 January...
Carnitine assists in promoting the excretion of propionyl-CoA as propionylcarnitine. Since propionyl-CoA carboxylase requires biotin as a cofactor, a cofactor found in other carboxylases, PA may be identified in patients with multiple carboxylase deficiency. Not all PAs are responsive to biotin, in ...
Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency. J Inherit Metab Dis. 2008;31(1):88–96. https://doi.org/10.1007/s10545-007-0492-3. Article CAS PubMed Google Scholar Gn...