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Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency

Lipin‐1 is a phosphatidic acid phosphohydrolase (EC 3.1.3.4) that catalyzes the dephosphorylation of phosphatidic acid to diacylglycerol and inorganic phosphate. Deficiency of this enzyme causes potentially fatal severe, recurrent episodes of rhabdomyolysis triggered by infection. The defect has onl...

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Autores principales: Stepien, Karolina M., Schmidt, Wolfgang M., Bittner, Reginald E., O'Toole, Orna, McNamara, Brian, Treacy, Eileen P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498837/
https://www.ncbi.nlm.nih.gov/pubmed/31240148
http://dx.doi.org/10.1002/jmd2.12016
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author Stepien, Karolina M.
Schmidt, Wolfgang M.
Bittner, Reginald E.
O'Toole, Orna
McNamara, Brian
Treacy, Eileen P.
author_facet Stepien, Karolina M.
Schmidt, Wolfgang M.
Bittner, Reginald E.
O'Toole, Orna
McNamara, Brian
Treacy, Eileen P.
author_sort Stepien, Karolina M.
collection PubMed
description Lipin‐1 is a phosphatidic acid phosphohydrolase (EC 3.1.3.4) that catalyzes the dephosphorylation of phosphatidic acid to diacylglycerol and inorganic phosphate. Deficiency of this enzyme causes potentially fatal severe, recurrent episodes of rhabdomyolysis triggered by infection. The defect has only recently been recognized so little is known about the long‐term outcome in adult patients with this disorder. We report the course and outcome of a 25‐year‐old female patient with lipin‐1 deficiency after a recent episode of rhabdomyolysis requiring intensive care admission with a peak creatine kinase of 500 000 IU/L. One‐year post discharge from intensive care, the patient has residual drop foot bilaterally consistent with bilateral common peroneal neuropathies in addition to a background residual distal myopathy.
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spelling pubmed-64988372019-05-07 Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency Stepien, Karolina M. Schmidt, Wolfgang M. Bittner, Reginald E. O'Toole, Orna McNamara, Brian Treacy, Eileen P. JIMD Rep Case Reports Lipin‐1 is a phosphatidic acid phosphohydrolase (EC 3.1.3.4) that catalyzes the dephosphorylation of phosphatidic acid to diacylglycerol and inorganic phosphate. Deficiency of this enzyme causes potentially fatal severe, recurrent episodes of rhabdomyolysis triggered by infection. The defect has only recently been recognized so little is known about the long‐term outcome in adult patients with this disorder. We report the course and outcome of a 25‐year‐old female patient with lipin‐1 deficiency after a recent episode of rhabdomyolysis requiring intensive care admission with a peak creatine kinase of 500 000 IU/L. One‐year post discharge from intensive care, the patient has residual drop foot bilaterally consistent with bilateral common peroneal neuropathies in addition to a background residual distal myopathy. John Wiley & Sons, Inc. 2019-03-14 /pmc/articles/PMC6498837/ /pubmed/31240148 http://dx.doi.org/10.1002/jmd2.12016 Text en © 2019 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM. This is an open access article under the terms of the http://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
Stepien, Karolina M.
Schmidt, Wolfgang M.
Bittner, Reginald E.
O'Toole, Orna
McNamara, Brian
Treacy, Eileen P.
Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency
title Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency
title_full Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency
title_fullStr Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency
title_full_unstemmed Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency
title_short Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency
title_sort long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498837/
https://www.ncbi.nlm.nih.gov/pubmed/31240148
http://dx.doi.org/10.1002/jmd2.12016
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