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New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
Ryder B, Inbar-Feigenberg M, Glamuzina E, Halligan R, Vara R, Elliot A, Coman D, Minto T, Lewis K, Schiff M, Vijay S, Akroyd R, Thompson S, MacDonald A, Woodward AJM, Gribben JEL, Grunewald S, Belaramani K, Hall M, van der Haak N, Devanapalli B, Tolun AA, Wilson C, Bhattacharya K. Ryder B, et al. J Inherit Metab Dis. 2021 Jul;44(4):903-915. doi: 10.1002/jimd.12371. Epub 2021 Mar 29. J Inherit Metab Dis. 2021. PMID: 33634872
Most patients present in the first 2 days of life, with hypoketotic hypoglycaemia, hyperammonaemia, cardiomyopathy or arrhythmia, hepatomegaly and elevated liver enzymes. Multi-centre international retrospective chart review of clinical presentation, biochemistry, treatmen …
Most patients present in the first 2 days of life, with hypoketotic hypoglycaemia, hyperammonaemia, cardiomyopathy or arrhythmia, hepatomega …
Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.
Habib A, Azize NAA, Rahman SA, Yakob Y, Suberamaniam V, Nazri MIBA, Abdullah Sani H, Ch'ng GS, Yin LH, Olpin S, Lock-Hock N. Habib A, et al. Clin Biochem. 2021 Dec;98:48-53. doi: 10.1016/j.clinbiochem.2021.10.002. Epub 2021 Oct 7. Clin Biochem. 2021. PMID: 34626609 Free article. Clinical Trial.
OBJECTIVE: Carnitine-acylcarnitine Translocase (CACT) deficiency (OMIM 212138) and carnitine palmitoyl transferase 2 (CPT2) deficiency (OMIM 60065050) are rare inherited disorders of mitochondrial long chain fatty acid oxidation. The aim of our study is to review the clinical …
OBJECTIVE: Carnitine-acylcarnitine Translocase (CACT) deficiency (OMIM 212138) and carnitine palmitoyl transferase 2 (CPT2) deficiency (OMIM …
Historical Perspective on Clinical Trials of Carnitine in Children and Adults.
Buist NR. Buist NR. Ann Nutr Metab. 2016;68 Suppl 3:1-4. doi: 10.1159/000448320. Epub 2016 Dec 9. Ann Nutr Metab. 2016. PMID: 27931034 Free article. Review.
Today, carnitine treatment of inborn errors of metabolism is a safe and integral part of many treatment protocols, and a growing interest in carnitine has resulted in greater recognition of many causes of carnitine depletion. Notwithstanding, there is still a lack of data from …
Today, carnitine treatment of inborn errors of metabolism is a safe and integral part of many treatment protocols, and a growing interest in …
Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.
Vatanavicharn N, Yamada K, Aoyama Y, Fukao T, Densupsoontorn N, Jirapinyo P, Sathienkijkanchai A, Yamaguchi S, Wasant P. Vatanavicharn N, et al. Brain Dev. 2015 Aug;37(7):698-703. doi: 10.1016/j.braindev.2014.10.005. Epub 2014 Nov 1. Brain Dev. 2015. PMID: 25459972
The IVP assay revealed increased C16, C16:1, but decreased C2 with improvement by bezafibrate in the cultured fibroblasts. The short-term clinical trial of bezafibrate in Patient 1 did not show clinical improvement, and died after starting the trial fo …
The IVP assay revealed increased C16, C16:1, but decreased C2 with improvement by bezafibrate in the cultured fibroblasts. The short-term …
Prospective treatment in carnitine-acylcarnitine translocase deficiency.
Pierre G, Macdonald A, Gray G, Hendriksz C, Preece MA, Chakrapani A. Pierre G, et al. J Inherit Metab Dis. 2007 Oct;30(5):815. doi: 10.1007/s10545-007-0518-x. Epub 2007 May 12. J Inherit Metab Dis. 2007. PMID: 17508264
It can present in the neonatal period or infancy with a severe clinical form, typically with convulsions, hypothermia, encephalopathy, cardiomyopathy and liver dysfunction, or with a milder phenotype with episodes of hypoglycaemia and hyperammonaemia during intercurrent il …
It can present in the neonatal period or infancy with a severe clinical form, typically with convulsions, hypothermia, encephalopathy …
Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency.
Nuoffer JM, de Lonlay P, Costa C, Roe CR, Chamoles N, Brivet M, Saudubray JM. Nuoffer JM, et al. Eur J Pediatr. 2000 Jan-Feb;159(1-2):82-5. doi: 10.1007/pl00013810. Eur J Pediatr. 2000. PMID: 10653336 Free article.
A patient with a severe phenotype of carnitine-acylcarnitine translocase deficiency (CATR)(McKusick 212138) is reported. ...Dietary treatment during neonatal adaptation and the subsequent six months of life and a trial of carnitine supplementati …
A patient with a severe phenotype of carnitine-acylcarnitine translocase deficiency (CATR)(McKusick 212138) is r …
The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study.
MacDonald A, Webster R, Whitlock M, Gerrard A, Daly A, Preece MA, Evans S, Ashmore C, Chakrapani A, Vijay S, Santra S. MacDonald A, et al. J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):297-304. doi: 10.1515/jpem-2017-0426. J Pediatr Endocrinol Metab. 2018. PMID: 29425111 Clinical Trial.
BACKGROUND: Children with long-chain fatty acid beta-oxidation disorders (LCFAOD) presenting with clinical symptoms are treated with a specialist infant formula, with medium chain triglyceride (MCT) mainly replacing long chain triglyceride (LCT). ...No child complained of …
BACKGROUND: Children with long-chain fatty acid beta-oxidation disorders (LCFAOD) presenting with clinical symptoms are treated with …