title: Fatty Acid oxidation disorder with secondary mitochondrial energy production defect: a case report.
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.
authors.affiliation: Department of Pediatrics, K. S. Hegde Medical Academy, NITTE University, Derlakatte, Mangalore, 575018 Karnataka India.
authors.forename: Seema Pavaman
authors.initials: SP
authors.lastname: Sindgikar
authors.affiliation: Department of Pediatrics, K. S. Hegde Medical Academy, NITTE University, Derlakatte, Mangalore, 575018 Karnataka India.
authors.forename: Deepthi Raran
authors.initials: DR
authors.lastname: Veetil
authors.affiliation: Department of Pediatrics, K. S. Hegde Medical Academy, NITTE University, Derlakatte, Mangalore, 575018 Karnataka India.
authors.forename: Rathika D
authors.initials: RD
authors.lastname: Shenoy
authors.affiliation: Department of Pediatrics, K. S. Hegde Medical Academy, NITTE University, Derlakatte, Mangalore, 575018 Karnataka India.
authors.forename: Vijaya
authors.initials: V
authors.lastname: Shenoy
keywords: Lactic acidosis; Reye-like; Urine organic acids; Very-long-chain acyl-CoA dehydrogenase deficiency