Literature DB >> 9877038

Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency.

R Parini1, F Menni, B Garavaglia, V Fesslova, D Melotti, M L Massone, E Lamantea, M Rimoldi, P Vizziello, R Gatti.   

Abstract

UNLABELLED: A 5-year-old boy with late-onset very long-chain acyl-CoA-dehydrogenase (VLCAD) deficiency presented with acute cardiomyopathy, myopathy, gross myoglobinuria and normoglycaemia. The clinical course after diagnosis was favourable.
CONCLUSION: late-onset VLCAD deficiency may present as acute cardiomyopathy.

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9877038     DOI： 10.1007/s004310050984

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  6 in total

1.  The effects of aerobic interval training on the left ventricular morphology and function of VLCAD-deficient mice.

Authors:  Charles E Riggs; Marcos A Michaelides; Koulla M Parpa; Nancy J Smith-Blair
Journal:  Eur J Appl Physiol       Date:  2010-07-17       Impact factor: 3.078

2.  MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.

Authors:  Muhammad Ali Pervaiz; Fran Kendal; Madhuri Hegde; Rani H Singh
Journal:  Indian J Hum Genet       Date:  2011-01

3.  Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.

Authors:  Melanie B Gillingham; Stephen B Heitner; Julie Martin; Sarah Rose; Amy Goldstein; Areeg Hassan El-Gharbawy; Stephanie Deward; Michael R Lasarev; Jim Pollaro; James P DeLany; Luke J Burchill; Bret Goodpaster; James Shoemaker; Dietrich Matern; Cary O Harding; Jerry Vockley
Journal:  J Inherit Metab Dis       Date:  2017-09-04       Impact factor: 4.982

Review 4.  Metabolic cardiomyopathies.

Authors:  B Guertl; C Noehammer; G Hoefler
Journal:  Int J Exp Pathol       Date:  2000-12       Impact factor: 1.925

5.  Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.

Authors:  J M Stoler; M A Sabry; C Hanley; C L Hoppel; V E Shih
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

6.  Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment.

Authors:  R Parini; F Invernizzi; F Menni; B Garavaglia; D Melotti; M Rimoldi; S Salera; C Tosetto; F Taroni
Journal:  J Inherit Metab Dis       Date:  1999-08       Impact factor: 4.982
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.