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Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark

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Borch, Luise ; Lund, Allan ; Wibrand, Flemming ; Christensen, Ernst ; Søndergaard, Charlotte ; Gahrn, Birthe ; Hougaard, David Michael ; Andresen, Brage Storstein ; Gregersen, Niels ; Olsen, Rikke Katrine Jentoft. / Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark. I: JIMD Reports. 2012 ; Bind 3. s. 11-15.

Bibtex

@article{291dc336bd6a46afb9ea067aec4137f6,
title = "Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark",
abstract = "Carnitine palmitoyl transferase (CPT) 1 A deficiency is a rare disorder of hepatic long-chain fatty acid oxidation. CPT1 deficiency is included in newborn screening programs in a number of countries to allow presymptomatic detection and early treatment of affected patients.We present a case of presymptomatic CPT1A deficiency detected through newborn screening in Denmark with diagnostic levels of carnitine and acylcarnitines in the initial dried blood spot. Levels of plasma-free carnitine and acylcarnitines in follow-up samples were normal, but reverted to diagnostic levels when the patient developed clinical symptoms at the age of 8 months. At that time, a diagnosis of CPT1A deficiency was confirmed by sequence analysis of the CPT1A gene revealing homozygosity for a novel c.167C>T variation in exon 3. Enzyme activity measurements showed a relatively mild enzyme defect with a decreased residual enzyme activity of 17-25{\%}. We conclude that CPT1A gene testing and/or enzyme assay is mandatory to confirm an abnormal newborn screen suggesting CPT1A deficiency to avoid delayed diagnoses.",
author = "Luise Borch and Allan Lund and Flemming Wibrand and Ernst Christensen and Charlotte S{\o}ndergaard and Birthe Gahrn and Hougaard, {David Michael} and Andresen, {Brage Storstein} and Niels Gregersen and Olsen, {Rikke Katrine Jentoft}",
year = "2012",
doi = "10.1007/8904_2011_35",
language = "English",
volume = "3",
pages = "11--15",
journal = "JIMD Reports",
issn = "2192-8304",
publisher = "Springer Berlin",

}

RIS

TY - JOUR

T1 - Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark

AU - Borch, Luise

AU - Lund, Allan

AU - Wibrand, Flemming

AU - Christensen, Ernst

AU - Søndergaard, Charlotte

AU - Gahrn, Birthe

AU - Hougaard, David Michael

AU - Andresen, Brage Storstein

AU - Gregersen, Niels

AU - Olsen, Rikke Katrine Jentoft

PY - 2012

Y1 - 2012

N2 - Carnitine palmitoyl transferase (CPT) 1 A deficiency is a rare disorder of hepatic long-chain fatty acid oxidation. CPT1 deficiency is included in newborn screening programs in a number of countries to allow presymptomatic detection and early treatment of affected patients.We present a case of presymptomatic CPT1A deficiency detected through newborn screening in Denmark with diagnostic levels of carnitine and acylcarnitines in the initial dried blood spot. Levels of plasma-free carnitine and acylcarnitines in follow-up samples were normal, but reverted to diagnostic levels when the patient developed clinical symptoms at the age of 8 months. At that time, a diagnosis of CPT1A deficiency was confirmed by sequence analysis of the CPT1A gene revealing homozygosity for a novel c.167C>T variation in exon 3. Enzyme activity measurements showed a relatively mild enzyme defect with a decreased residual enzyme activity of 17-25%. We conclude that CPT1A gene testing and/or enzyme assay is mandatory to confirm an abnormal newborn screen suggesting CPT1A deficiency to avoid delayed diagnoses.

AB - Carnitine palmitoyl transferase (CPT) 1 A deficiency is a rare disorder of hepatic long-chain fatty acid oxidation. CPT1 deficiency is included in newborn screening programs in a number of countries to allow presymptomatic detection and early treatment of affected patients.We present a case of presymptomatic CPT1A deficiency detected through newborn screening in Denmark with diagnostic levels of carnitine and acylcarnitines in the initial dried blood spot. Levels of plasma-free carnitine and acylcarnitines in follow-up samples were normal, but reverted to diagnostic levels when the patient developed clinical symptoms at the age of 8 months. At that time, a diagnosis of CPT1A deficiency was confirmed by sequence analysis of the CPT1A gene revealing homozygosity for a novel c.167C>T variation in exon 3. Enzyme activity measurements showed a relatively mild enzyme defect with a decreased residual enzyme activity of 17-25%. We conclude that CPT1A gene testing and/or enzyme assay is mandatory to confirm an abnormal newborn screen suggesting CPT1A deficiency to avoid delayed diagnoses.

U2 - 10.1007/8904_2011_35

DO - 10.1007/8904_2011_35

M3 - Journal article

VL - 3

SP - 11

EP - 15

JO - JIMD Reports

JF - JIMD Reports

SN - 2192-8304

ER -

ID: 33286727