NA01763
DNA from Fibroblast
Description:
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CARNITINE PALMITOYLTRANSFERASE II; CPT2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
6 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
CPT2 |
| Chromosomal Location |
1p32 |
| Allelic Variant 1 |
600650.0002; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET FORM |
| Identified Mutation |
SER113LEU; CPT II deficiency is the most common inherited disorder of lipid metabolism affecting skeletal muscle. The most frequent clinical form of CPT II deficiency is represented by the young adult who experiences recurrent episodes of muscle pain, rhabdomyolysis, and paroxysmal myoglobinuria triggered by prolonged exercise, cold or fever, with acute renal failure resulting from the myoglobinuria in some cases (see 255110). Taroni et al. (1993) demonstrated that the most frequent molecular defect in such cases is a C-to-T transition at nucleotide 439, resulting in a ser133-to-leu substitution. The S113L mutation accounts for approximately 60% of the mutant CPT II alleles. In a brother and sister, the product of a consanguineous marriage, and in a first cousin, also the product of a consanguineous marriage, Handig et al. (1996) identified the S113L mutation in homozygous state. They could trace the cases back to a common ancestral couple 5 generations earlier. The family showed clinical variability of the disorder. The proband, a male, suffered from a classic form of adult CPT II deficiency with recurrent rhabdomyolysis with myoglobinuria and serum creatinine kinase levels up to more than 100,000 U/l. On the other hand, a female cousin was almost asymptomatic and had never had episodes of acute muscular injury with rhabdomyolysis and myoglobinuria. In contrast, her sister had died at the age of 16 years during a severe attack of muscle injury.
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| Gene |
CPT2 |
| Chromosomal Location |
1p32 |
| Allelic Variant 2 |
600650.0002; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET FORM |
| Identified Mutation |
SER113LEU; CPT II deficiency is the most common inherited disorder of lipid metabolism affecting skeletal muscle. The most frequent clinical form of CPT II deficiency is represented by the young adult who experiences recurrent episodes of muscle pain, rhabdomyolysis, and paroxysmal myoglobinuria triggered by prolonged exercise, cold or fever, with acute renal failure resulting from the myoglobinuria in some cases (see 255110). Taroni et al. (1993) demonstrated that the most frequent molecular defect in such cases is a C-to-T transition at nucleotide 439, resulting in a ser133-to-leu substitution. The S113L mutation accounts for approximately 60% of the mutant CPT II alleles. In a brother and sister, the product of a consanguineous marriage, and in a first cousin, also the product of a consanguineous marriage, Handig et al. (1996) identified the S113L mutation in homozygous state. They could trace the cases back to a common ancestral couple 5 generations earlier. The family showed clinical variability of the disorder. The proband, a male, suffered from a classic form of adult CPT II deficiency with recurrent rhabdomyolysis with myoglobinuria and serum creatinine kinase levels up to more than 100,000 U/l. On the other hand, a female cousin was almost asymptomatic and had never had episodes of acute muscular injury with rhabdomyolysis and myoglobinuria. In contrast, her sister had died at the age of 16 years during a severe attack of muscle injury.
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| Remarks |
Formerly GM00249; recurrent myoglobinuria; passage 4 at CCR; donor subject is homozygous for a C>T transition at nucleotide 439 of the CPT2 gene (439C>T) resulting in a ser-to-leu substitution at codon 113 [Ser113Leu (S113L)] |
| Karunanidhi A, Van't Land C, Rajasundaram D, Grings M, Vockley J, Mohsen AW, Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid ß-oxidation deficient cells: A comparative study Journal of inherited metabolic disease45:541-556 2022 |
| PubMed ID: 35076099 |
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