Literature DB >> 25298636

Fatty Acid oxidation disorder with secondary mitochondrial energy production defect: a case report.

Seema Pavaman Sindgikar1, Deepthi Raran Veetil1, Rathika D Shenoy1, Vijaya Shenoy1.   

Abstract

The presentation of long-chain fatty acid oxidation disorders (FAOD), unlike short and medium-chain disorders can be with secondary defects in mitochondrial function along with typical features of FAOD. We report an infant with Reye-like presentation and acylcarnitine profile suggestive of very-long-chain acyl-CoA dehydrogenase deficiency who had lactic acidosis and urine gas chromatographic pattern of mitochondrial defects.

Entities:  

Keywords:  Lactic acidosis; Reye-like; Urine organic acids; Very-long-chain acyl-CoA dehydrogenase deficiency

Year:  2013        PMID： 25298636      PMCID： PMC4175694          DOI： 10.1007/s12291-013-0391-3

Source DB:  PubMed          Journal:  Indian J Clin Biochem        ISSN： 0970-1915


  8 in total

Review 1.  Compromised fatty acid oxidation in mitochondrial disorders.

Authors:  L Hagenfeldt
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

Review 2.  Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening.

Authors:  Ute Spiekerkoetter
Journal:  J Inherit Metab Dis       Date:  2010-05-07       Impact factor: 4.982

3.  Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls.

Authors:  A M Das; R Fingerhut; R J Wanders; K Ullrich
Journal:  Eur J Pediatr       Date:  2000-04       Impact factor: 3.183

4.  Respiratory chain defects may present only with hypoglycemia.

Authors:  Fanny Mochel; Abdelhamid Slama; Guy Touati; Isabelle Desguerre; Irina Giurgea; Daniel Rabier; Michele Brivet; Pierre Rustin; Jean-Marie Saudubray; Pascale DeLonlay
Journal:  J Clin Endocrinol Metab       Date:  2005-03-22       Impact factor: 5.958

Review 5.  Disorders of mitochondrial fatty acyl-CoA beta-oxidation.

Authors:  R J Wanders; P Vreken; M E den Boer; F A Wijburg; A H van Gennip; L IJlst
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

6.  Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiency.

Authors:  J L Van Hove; S G Kahler; M D Feezor; J P Ramakrishna; P Hart; W R Treem; J J Shen; D Matern; D S Millington
Journal:  J Inherit Metab Dis       Date:  2000-09       Impact factor: 4.982

7.  Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.

Authors:  Seiji Yamaguchi; Hong Li; Jamiyan Purevsuren; Kenji Yamada; Midori Furui; Tomoo Takahashi; Yuichi Mushimoto; Hironori Kobayashi; Yuki Hasegawa; Takeshi Taketani; Toshiyuki Fukao; Seiji Fukuda
Journal:  Mol Genet Metab       Date:  2012-07-14       Impact factor: 4.797

8.  Lactic acidosis in long-chain fatty acid beta-oxidation disorders.

Authors:  F V Ventura; J P Ruiter; L IJlst; I T de Almeida; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982
  8 in total

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