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Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!

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Primary carnitine deficiency - diagnosis after heart transplantation: better late than never! / Grünert, Sarah C; Tucci, Sara; Schumann, Anke; Schwendt, Meike; Gramer, Gwendolyn; Hoffmann, Georg F; Erbel, Michelle; Stiller, Brigitte; Spiekerkoetter, Ute.

in: ORPHANET J RARE DIS, Jahrgang 15, Nr. 1, 10.04.2020, S. 87.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Grünert, SC, Tucci, S, Schumann, A, Schwendt, M, Gramer, G, Hoffmann, GF, Erbel, M, Stiller, B & Spiekerkoetter, U 2020, 'Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!', ORPHANET J RARE DIS, Jg. 15, Nr. 1, S. 87. https://doi.org/10.1186/s13023-020-01371-2

APA

Grünert, S. C., Tucci, S., Schumann, A., Schwendt, M., Gramer, G., Hoffmann, G. F., Erbel, M., Stiller, B., & Spiekerkoetter, U. (2020). Primary carnitine deficiency - diagnosis after heart transplantation: better late than never! ORPHANET J RARE DIS, 15(1), 87. https://doi.org/10.1186/s13023-020-01371-2

Vancouver

Grünert SC, Tucci S, Schumann A, Schwendt M, Gramer G, Hoffmann GF et al. Primary carnitine deficiency - diagnosis after heart transplantation: better late than never! ORPHANET J RARE DIS. 2020 Apr 10;15(1):87. https://doi.org/10.1186/s13023-020-01371-2

Bibtex

@article{805ffdf0e41e4916bdf9d7050e4c78a8,
title = "Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!",
abstract = "BACKGROUND: Primary carnitine deficiency due to mutations in the SLC22A5 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden cardiac death.RESULTS: We report on a 7-year-old boy diagnosed with primary carnitine deficiency 2 years after successful heart transplantation thanks his younger sister's having been identified via expanded newborn screening during a pilot study evaluating an extension of the German newborn screening panel.CONCLUSION: As L-carnitine supplementation can prevent and mostly reverse clinical symptoms of primary carnitine deficiency, all patients with cardiomyopathy should be investigated for primary carnitine deficiency even if newborn screening results were unremarkable.",
keywords = "Cardiomyopathies/diagnosis, Carnitine/deficiency, Child, Heart Transplantation, Humans, Hyperammonemia, Infant, Newborn, Male, Muscular Diseases/diagnosis, Organic Cation Transport Proteins/genetics, Pilot Projects, Solute Carrier Family 22 Member 5",
author = "Gr{\"u}nert, {Sarah C} and Sara Tucci and Anke Schumann and Meike Schwendt and Gwendolyn Gramer and Hoffmann, {Georg F} and Michelle Erbel and Brigitte Stiller and Ute Spiekerkoetter",
year = "2020",
month = apr,
day = "10",
doi = "10.1186/s13023-020-01371-2",
language = "English",
volume = "15",
pages = "87",
journal = "ORPHANET J RARE DIS",
issn = "1750-1172",
publisher = "BioMed Central Ltd.",
number = "1",

}

RIS

TY - JOUR

T1 - Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!

AU - Grünert, Sarah C

AU - Tucci, Sara

AU - Schumann, Anke

AU - Schwendt, Meike

AU - Gramer, Gwendolyn

AU - Hoffmann, Georg F

AU - Erbel, Michelle

AU - Stiller, Brigitte

AU - Spiekerkoetter, Ute

PY - 2020/4/10

Y1 - 2020/4/10

N2 - BACKGROUND: Primary carnitine deficiency due to mutations in the SLC22A5 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden cardiac death.RESULTS: We report on a 7-year-old boy diagnosed with primary carnitine deficiency 2 years after successful heart transplantation thanks his younger sister's having been identified via expanded newborn screening during a pilot study evaluating an extension of the German newborn screening panel.CONCLUSION: As L-carnitine supplementation can prevent and mostly reverse clinical symptoms of primary carnitine deficiency, all patients with cardiomyopathy should be investigated for primary carnitine deficiency even if newborn screening results were unremarkable.

AB - BACKGROUND: Primary carnitine deficiency due to mutations in the SLC22A5 gene is a rare but well-treatable metabolic disorder that puts patients at risk for metabolic decompensations, skeletal and cardiac myopathy and sudden cardiac death.RESULTS: We report on a 7-year-old boy diagnosed with primary carnitine deficiency 2 years after successful heart transplantation thanks his younger sister's having been identified via expanded newborn screening during a pilot study evaluating an extension of the German newborn screening panel.CONCLUSION: As L-carnitine supplementation can prevent and mostly reverse clinical symptoms of primary carnitine deficiency, all patients with cardiomyopathy should be investigated for primary carnitine deficiency even if newborn screening results were unremarkable.

KW - Cardiomyopathies/diagnosis

KW - Carnitine/deficiency

KW - Child

KW - Heart Transplantation

KW - Humans

KW - Hyperammonemia

KW - Infant, Newborn

KW - Male

KW - Muscular Diseases/diagnosis

KW - Organic Cation Transport Proteins/genetics

KW - Pilot Projects

KW - Solute Carrier Family 22 Member 5

U2 - 10.1186/s13023-020-01371-2

DO - 10.1186/s13023-020-01371-2

M3 - SCORING: Journal article

C2 - 32276632

VL - 15

SP - 87

JO - ORPHANET J RARE DIS

JF - ORPHANET J RARE DIS

SN - 1750-1172

IS - 1

ER -