Pediatrics. 1991 Mar;87(3):328-33.

Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency.

Treem WR, Stanley CA, Hale DE, Leopold HB, Hyams JS.

Source

Division of Pediatric Gastroenterology and Nutrition, Hartford Hospital, Connecticut 06115.

Abstract

Inherited defects in fatty acid oxidation, which have been described and diagnosed with increasing frequency in the last decade, are most commonly attributed to a deficiency in the activity of medium-chain acyl-CoA dehydrogenase. Few cases of the related enzyme defect of long-chain acyl-CoA dehydrogenase activity have been reported. An infant with documented long-chain acyl-CoA dehydrogenase deficiency is described with a detailed metabolic profile, long-term clinical follow-up, and response to treatment. This patient is compared with the seven previously published cases of this disorder in order to stress the unique features of the initial presentation, more subtle late manifestations of the disease, and clinical and biochemical differentiation from the more common medium-chain acyl-CoA dehydrogenase deficiency. This report stresses the enlarging spectrum of the clinical presentation and natural history of this defect in fatty acid oxidation.

PMID:: 2000272; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances, Grant Support

Publication Types

MeSH Terms

Substances

Acyl-CoA Dehydrogenase, Long-Chain

Grant Support

LinkOut - more resources

Full Text Sources

EBSCO

Medical

Supplemental Content

Save items

Related citations in PubMed

Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome. [Hepatology. 1986]
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.
Treem WR, Witzleben CA, Piccoli DA, Stanley CA, Hale DE, Coates PM, Watkins JB. Hepatology. 1986 Nov-Dec; 6(6):1270-8.
Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card. [Pediatrics. 2001]
Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A. Pediatrics. 2001 Jul; 108(1):E19.
Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood. [Pediatr Res. 1990]
Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.
Rocchiccioli F, Wanders RJ, Aubourg P, Vianey-Liaud C, Ijlst L, Fabre M, Cartier N, Bougneres PF. Pediatr Res. 1990 Dec; 28(6):657-62.
Review The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies. [Scand J Clin Lab Invest Suppl....]
Review The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.
Gregersen N. Scand J Clin Lab Invest Suppl. 1985; 174:1-60.
Review Mouse models for disorders of mitochondrial fatty acid beta-oxidation. [ILAR J. 2002]
Review Mouse models for disorders of mitochondrial fatty acid beta-oxidation.
Schuler AM, Wood PA. ILAR J. 2002; 43(2):57-65.

See reviews... See all...

Cited by 3 PubMed Central articles

Review Monogenic dyslipidemias: window on determinants of plasma lipoprotein metabolism. [Am J Hum Genet. 2001]
Review Monogenic dyslipidemias: window on determinants of plasma lipoprotein metabolism.
Hegele RA. Am J Hum Genet. 2001 Dec; 69(6):1161-77. Epub 2001 Oct 26.
Review L-Carnitine. [Arch Dis Child. 1996]
Review L-Carnitine.
Walter JH. Arch Dis Child. 1996 Jun; 74(6):475-8.
Review Medium chain acyl-CoA dehydrogenase deficiency. [Arch Dis Child. 1992]
Review Medium chain acyl-CoA dehydrogenase deficiency.
Touma EH, Charpentier C. Arch Dis Child. 1992 Jan; 67(1):142-5.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide
Primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
Protein
Protein translation features of primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of lo...
Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency.
Pediatrics. 1991 Mar ;87(3):328-33.

PubMed
Female sexual dysfunction in urological patients: findings from a major metropol...
Female sexual dysfunction in urological patients: findings from a major metropolitan area in the USA.
BJU Int. 2010 Aug ;106(4):524-6. Epub 2009 Dec 11 .

PubMed
Long-term data on the survival of patients with prostate cancer treated with rad...
Long-term data on the survival of patients with prostate cancer treated with radical prostatectomy in the prostate-specific antigen era.
BJU Int. 2010 Jul ;106(1):37-43. Epub 2009 Dec 11 .

PubMed
Social adversity predicts ADHD-medication in school children--a national cohort ...
Social adversity predicts ADHD-medication in school children--a national cohort study.
Acta Paediatr. 2010 Jun ;99(6):920-4. Epub 2009 Dec 11 .

PubMed
Newly identified forms of electron transfer flavoprotein deficiency in two patie...
Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II.
Pediatr Res. 1991 Jan ;29(1):60-3.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: