Defect in fatty acid oxidation: Laboratory and pathologic findings in a patient

James H. Tonsgard; Janet K. Stephens; William J. Rhead; Duna Penn; Allen L. Horwitz; Barbara S. Kirschner; Peter F. Whitington; Stuart Berger; Marjorie E. Tripp

doi:10.1016/0887-8994(91)90009-A

Defect in fatty acid oxidation: Laboratory and pathologic findings in a patient

James H. Tonsgard^*, Janet K. Stephens, William J. Rhead, Duna Penn, Allen L. Horwitz, Barbara S. Kirschner, Peter F. Whitington, Stuart Berger, Marjorie E. Tripp

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

The clinical, laboratory, and pathologic findings in a patient with a previously undescribed deficiency in fatty acid oxidation are summarized. The patient had a fatal defect in fatty acid metabolism profoundly affecting heart, skeletal muscle, liver, and kidney. Oxidation of palmitate was 38-51% of controls. Complementation assays demonstrated that the patient's fibroblasts complemented fibroblast lines from all known defects in fatty acid oxidation except long-chain acyl-CoA dehydrogenase deficiency. Urine and serum carnitine profiles also were indicative of a defect in the oxidation of long-chain substrate; however, the palmitoyl-CoA dehydrogenase activity was actually increased. This finding indicates that the patient had a defect that was distinct from, but possibly related to, long-chain acyl-CoA dehydrogenase deficiency. This patient demonstrates the laboratory and pathologic findings in defects in fatty acid oxidation and how they differ from those in Reye syndrome.

Original language	English (US)
Pages (from-to)	125-130
Number of pages	6
Journal	Pediatric neurology
Volume	7
Issue number	2
DOIs	https://doi.org/10.1016/0887-8994(91)90009-A
State	Published - 1991

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Neurology
Developmental Neuroscience
Clinical Neurology

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10.1016/0887-8994(91)90009-A

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@article{9364e446e1424223b1b1e627a83670c3,

title = "Defect in fatty acid oxidation: Laboratory and pathologic findings in a patient",

abstract = "The clinical, laboratory, and pathologic findings in a patient with a previously undescribed deficiency in fatty acid oxidation are summarized. The patient had a fatal defect in fatty acid metabolism profoundly affecting heart, skeletal muscle, liver, and kidney. Oxidation of palmitate was 38-51% of controls. Complementation assays demonstrated that the patient's fibroblasts complemented fibroblast lines from all known defects in fatty acid oxidation except long-chain acyl-CoA dehydrogenase deficiency. Urine and serum carnitine profiles also were indicative of a defect in the oxidation of long-chain substrate; however, the palmitoyl-CoA dehydrogenase activity was actually increased. This finding indicates that the patient had a defect that was distinct from, but possibly related to, long-chain acyl-CoA dehydrogenase deficiency. This patient demonstrates the laboratory and pathologic findings in defects in fatty acid oxidation and how they differ from those in Reye syndrome.",

author = "Tonsgard, {James H.} and Stephens, {Janet K.} and Rhead, {William J.} and Duna Penn and Horwitz, {Allen L.} and Kirschner, {Barbara S.} and Whitington, {Peter F.} and Stuart Berger and Tripp, {Marjorie E.}",

note = "Funding Information: The authors would like to thank Carol Pettis for typing the manuscript and Mary Chang, Sam Moon, and Cameron Reece for their technical assistance. The initial analysis of urine acylcarnitine was perfnrmed by Dr. David S. Millington of Duke University. Palmitoyl-CoA and octan-oyI-CoA dehydrogenase activity were measured by Dr. Daniel Hale of Children's Hospital of Philadelphia. This work was supported in part by grants from the Block Fund, University of Chicago, and U.S. Public Health Service NS-23616 and HD-04583.",

year = "1991",

doi = "10.1016/0887-8994(91)90009-A",

language = "English (US)",

volume = "7",

pages = "125--130",

journal = "Pediatric neurology",

issn = "0887-8994",

publisher = "Elsevier Inc.",

number = "2",

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T1 - Defect in fatty acid oxidation

T2 - Laboratory and pathologic findings in a patient

AU - Tonsgard, James H.

AU - Stephens, Janet K.

AU - Rhead, William J.

AU - Penn, Duna

AU - Horwitz, Allen L.

AU - Kirschner, Barbara S.

AU - Whitington, Peter F.

AU - Berger, Stuart

AU - Tripp, Marjorie E.

N1 - Funding Information: The authors would like to thank Carol Pettis for typing the manuscript and Mary Chang, Sam Moon, and Cameron Reece for their technical assistance. The initial analysis of urine acylcarnitine was perfnrmed by Dr. David S. Millington of Duke University. Palmitoyl-CoA and octan-oyI-CoA dehydrogenase activity were measured by Dr. Daniel Hale of Children's Hospital of Philadelphia. This work was supported in part by grants from the Block Fund, University of Chicago, and U.S. Public Health Service NS-23616 and HD-04583.

PY - 1991

Y1 - 1991

N2 - The clinical, laboratory, and pathologic findings in a patient with a previously undescribed deficiency in fatty acid oxidation are summarized. The patient had a fatal defect in fatty acid metabolism profoundly affecting heart, skeletal muscle, liver, and kidney. Oxidation of palmitate was 38-51% of controls. Complementation assays demonstrated that the patient's fibroblasts complemented fibroblast lines from all known defects in fatty acid oxidation except long-chain acyl-CoA dehydrogenase deficiency. Urine and serum carnitine profiles also were indicative of a defect in the oxidation of long-chain substrate; however, the palmitoyl-CoA dehydrogenase activity was actually increased. This finding indicates that the patient had a defect that was distinct from, but possibly related to, long-chain acyl-CoA dehydrogenase deficiency. This patient demonstrates the laboratory and pathologic findings in defects in fatty acid oxidation and how they differ from those in Reye syndrome.

AB - The clinical, laboratory, and pathologic findings in a patient with a previously undescribed deficiency in fatty acid oxidation are summarized. The patient had a fatal defect in fatty acid metabolism profoundly affecting heart, skeletal muscle, liver, and kidney. Oxidation of palmitate was 38-51% of controls. Complementation assays demonstrated that the patient's fibroblasts complemented fibroblast lines from all known defects in fatty acid oxidation except long-chain acyl-CoA dehydrogenase deficiency. Urine and serum carnitine profiles also were indicative of a defect in the oxidation of long-chain substrate; however, the palmitoyl-CoA dehydrogenase activity was actually increased. This finding indicates that the patient had a defect that was distinct from, but possibly related to, long-chain acyl-CoA dehydrogenase deficiency. This patient demonstrates the laboratory and pathologic findings in defects in fatty acid oxidation and how they differ from those in Reye syndrome.

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Defect in fatty acid oxidation: Laboratory and pathologic findings in a patient

Abstract

ASJC Scopus subject areas

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