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Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation
Primary carnitine deficiency (PCD) is an inherited disease of fatty acid beta‐oxidation with autosomal recessive inheritance. The disease manifests as metabolic decompensation with hypoketotic hypoglycaemia associated with cardiomyopathy, hepatomegaly, rhabdomyolysis, and seizures. Various outcomes...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830015/ https://www.ncbi.nlm.nih.gov/pubmed/36636599 http://dx.doi.org/10.1002/jmd2.12346 |
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author | Louis, Lebreton Margaux, Gaschignard Claire, Guibet Delphine, Lamireau Sandrine, Roche Emmanuel, Richard Cécile, Ged Samir, Mesli Isabelle, Redonnet‐Vernhet |
author_facet | Louis, Lebreton Margaux, Gaschignard Claire, Guibet Delphine, Lamireau Sandrine, Roche Emmanuel, Richard Cécile, Ged Samir, Mesli Isabelle, Redonnet‐Vernhet |
author_sort | Louis, Lebreton |
collection | PubMed |
description | Primary carnitine deficiency (PCD) is an inherited disease of fatty acid beta‐oxidation with autosomal recessive inheritance. The disease manifests as metabolic decompensation with hypoketotic hypoglycaemia associated with cardiomyopathy, hepatomegaly, rhabdomyolysis, and seizures. Various outcomes are described from asymptomatic adults to dramatic sudden infant death syndrome cases. We present a severe case of PCD decompensation in an 18‐week‐old female. She presented with hypotonia, moaning, diarrhea, and vomiting at the pediatric emergency. Initially suspected as intracranial hypertension, the clinical condition evolved rapidly and caused a reversible cardiac arrest with profound hypoglycemia. Despite carnitine supplementation, she succumbed from cardiac arrhythmia and multivisceral failure 4 days after admission. The genetic analyses showed a PCD with biallelic pathogenic variants of SLC22A5 gene. The case report is notable for the severity of the cardiac damage possibly favored by maternal carnitine deficiency during pregnancy. The analysis of previously published PCD cases highlights (i) the importance of having large access to emergency biochemical tests for early therapeutic care although the disease has unpredictable severity and (ii) the fact that the clinical outcome remains unpredictable if carnitine treatment is initiated late. |
format | Online Article Text |
id | pubmed-9830015 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-98300152023-01-11 Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation Louis, Lebreton Margaux, Gaschignard Claire, Guibet Delphine, Lamireau Sandrine, Roche Emmanuel, Richard Cécile, Ged Samir, Mesli Isabelle, Redonnet‐Vernhet JIMD Rep Case Reports Primary carnitine deficiency (PCD) is an inherited disease of fatty acid beta‐oxidation with autosomal recessive inheritance. The disease manifests as metabolic decompensation with hypoketotic hypoglycaemia associated with cardiomyopathy, hepatomegaly, rhabdomyolysis, and seizures. Various outcomes are described from asymptomatic adults to dramatic sudden infant death syndrome cases. We present a severe case of PCD decompensation in an 18‐week‐old female. She presented with hypotonia, moaning, diarrhea, and vomiting at the pediatric emergency. Initially suspected as intracranial hypertension, the clinical condition evolved rapidly and caused a reversible cardiac arrest with profound hypoglycemia. Despite carnitine supplementation, she succumbed from cardiac arrhythmia and multivisceral failure 4 days after admission. The genetic analyses showed a PCD with biallelic pathogenic variants of SLC22A5 gene. The case report is notable for the severity of the cardiac damage possibly favored by maternal carnitine deficiency during pregnancy. The analysis of previously published PCD cases highlights (i) the importance of having large access to emergency biochemical tests for early therapeutic care although the disease has unpredictable severity and (ii) the fact that the clinical outcome remains unpredictable if carnitine treatment is initiated late. John Wiley & Sons, Inc. 2022-11-09 /pmc/articles/PMC9830015/ /pubmed/36636599 http://dx.doi.org/10.1002/jmd2.12346 Text en © 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Reports Louis, Lebreton Margaux, Gaschignard Claire, Guibet Delphine, Lamireau Sandrine, Roche Emmanuel, Richard Cécile, Ged Samir, Mesli Isabelle, Redonnet‐Vernhet Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation |
title | Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation |
title_full | Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation |
title_fullStr | Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation |
title_full_unstemmed | Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation |
title_short | Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation |
title_sort | infantile primary carnitine deficiency: a severe cardiac presentation unresponsive to carnitine supplementation |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830015/ https://www.ncbi.nlm.nih.gov/pubmed/36636599 http://dx.doi.org/10.1002/jmd2.12346 |
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