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NA10337 DNA from Fibroblast

Description:

CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD

Affected:

Yes

Sex:

Male

Age:

3 MO (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Lipid Metabolism
Quantity 0.050mg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Cardiomyopathy, muscle weakness, hepatomegaly and cardiac arrhythmia; onset at 3 days of age; similarly affected brother expired at 4 days of age; patient is unable to increase plasma ketones in response to fasting hypoglycemia

Characterizations

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Passage Frozen 1
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks Cardiomyopathy, muscle weakness, hepatomegaly and cardiac arrhythmia; onset at 3 days of age; similarly affected brother expired at 4 days of age; patient is unable to increase plasma ketones in response to fasting hypoglycemia

Publications

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Stanley CA, Hale DE, Berry GT, Deleeuw S, Boxer J, Bonnefont JP, Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. N Engl J Med327:19-23 1992
PubMed ID: 1598097

External Links

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dbSNP dbSNP ID: 11360
Gene Ontology GO:0005319 lipid transporter activity
GO:0005488 binding
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0006810 transport
GO:0016021 integral to membrane
NCBI Gene Gene ID:788
NCBI GTR 212138 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD
OMIM 212138 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD
Omim Description CACT DEFICIENCY, INCLUDED
  CARNITINE-ACYLCARNITINE CARRIER; CACCARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, INCLUDED
  CARNITINE-ACYLCARNITINE TRANSLOCASE; CACT
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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