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Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders.
Norris MK, Scott AI, Sullivan S, Chang IJ, Lam C, Sun A, Hahn S, Thies JM, Gunnarson M, McKean KN, Merritt JL 2nd. Norris MK, et al. JPEN J Parenter Enteral Nutr. 2021 Feb;45(2):230-238. doi: 10.1002/jpen.2034. Epub 2020 Nov 11. JPEN J Parenter Enteral Nutr. 2021. PMID: 33085788
We report the complex medical and nutrition management of triheptanoin therapy initiated emergently for 3 patients with LC-FAOD. METHODS: Triheptanoin (Ultragenyx Pharmaceutical, Inc, Novato, CA, USA) was administered to 3 patients with LC-FAOD on a compassionate-use basis …
We report the complex medical and nutrition management of triheptanoin therapy initiated emergently for 3 patients with LC-FAOD. METH …
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
Carnitine acyl-carnitine translocase deficiency (CACTD) is a rare autosomal recessive disorder of mitochondrial long-chain fatty-acid transport. ...Long-term survival is possible in classical early-onset cases with long-chain fat restriction, judicious …
Carnitine acyl-carnitine translocase deficiency (CACTD) is a rare autosomal recessive disorder of mitochondrial …
Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency.
Costa C, Costa JM, Slama A, Boutron A, Vequaud C, Legrand A, Brivet M. Costa C, et al. Mol Genet Metab. 2003 Jan;78(1):68-73. doi: 10.1016/s1096-7192(02)00205-6. Mol Genet Metab. 2003. PMID: 12559850
Carnitine-acylcarnitine translocase (CAC) deficiency is a rare autosomal recessive disorder of long-chain fatty acid oxidation with a severe outcome. ...Altogether, including our results, 22 mutations of the CAC gene have been published to date in 23 p …
Carnitine-acylcarnitine translocase (CAC) deficiency is a rare autosomal recessive disorder of long-chain fatty …
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
David J, Chrastina P, Pešková K, Kožich V, Friedecký D, Adam T, Hlídková E, Vinohradská H, Novotná D, Hedelová M, Al Taji E, Holubová A, Skalická V, Macek M, Gaillyová R, Votava F. David J, et al. Cent Eur J Public Health. 2019 Jun;27(2):153-159. doi: 10.21101/cejph.a5441. Cent Eur J Public Health. 2019. PMID: 31241292 Free article.
In the Czech Republic (CZ), currently eighteen RD are screened: phenylketonuria/hyperphenylalaninemia (PKU/HPA), congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), long chain 3 …
In the Czech Republic (CZ), currently eighteen RD are screened: phenylketonuria/hyperphenylalaninemia (PKU/HPA), congenital hypothyroidism ( …
Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.
Tang C, Tan M, Xie T, Tang F, Liu S, Wei Q, Liu J, Huang Y. Tang C, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021 Aug 25;50(4):463-471. doi: 10.3724/zdxbyxb-2021-0260. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021. PMID: 34704419 Free PMC article. English.
Four false negative cases were found, all of them were citrin deficiency. The common diseases were primary carnitine deficiency (26.6%), methylmalonic aciduria (12.7%) and phenylalanine hydroxylase deficiency (11.4%). The mothers of 32 cases were confi …
Four false negative cases were found, all of them were citrin deficiency. The common diseases were primary carnitine defici …
Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.
Bower A, Imbard A, Benoist JF, Pichard S, Rigal O, Baud O, Schiff M. Bower A, et al. Sci Rep. 2019 Oct 1;9(1):14098. doi: 10.1038/s41598-019-50518-0. Sci Rep. 2019. PMID: 31575911 Free PMC article.
Inherited metabolic disorders (IMDs) in neonates are a diagnostic and therapeutic challenge for the neonatologist, with the priority being to rapidly flag the treatable diseases. ...This diagnostic approach allowed the diagnosis, treatment and survival of 4 neonates (maple …
Inherited metabolic disorders (IMDs) in neonates are a diagnostic and therapeutic challenge for the neonatologist, with the priority …
Diagnosis of disorders of intermediary metabolism in New Zealand before and after expanded newborn screening: 2004-2009.
Wilson C, Kerruish NJ, Wilcken B, Wiltshire E, Bendikson K, Webster D. Wilson C, et al. N Z Med J. 2012 Jan 20;125(1348):42-50. N Z Med J. 2012. PMID: 22282276
Seven cases presented clinically with IEMs either because they had conditions that are not detectable with EBNS or they presented as older children born prior to December 2006. Three cases of carnitine-acylcarnitine translocase deficiency (CACT) presen …
Seven cases presented clinically with IEMs either because they had conditions that are not detectable with EBNS or they presented as older c …
Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong.
Lee HC, Mak CM, Lam CW, Yuen YP, Chan AO, Shek CC, Siu TS, Lai CK, Ching CK, Siu WK, Chen SP, Law CY, Tai HL, Tam S, Chan AY. Lee HC, et al. Chin Med J (Engl). 2011 Apr;124(7):983-9. Chin Med J (Engl). 2011. PMID: 21542954
RESULTS: Among the cohort, 43 patients were diagnosed of IEM, including 30 cases (69%) of amino acidemias (predominantly citrin deficiency, hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency and tyrosinemia type I), 5 cases (12%) of organic …
RESULTS: Among the cohort, 43 patients were diagnosed of IEM, including 30 cases (69%) of amino acidemias (predominantly citrin deficienc …