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

JIMD Reports - Tập 46 Số 1 - Trang 4-10 - 2019
Karolina M. Stępień1, Wolfgang M. Schmidt2, Reginald E. Bittner2, Orna O’Toole3, Brian McNamara4, Eileen P. Treacy5,6,7
1Mark Holland Metabolic Unit, Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford, United Kingdom
2Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria
3Department of Neurology, Mercy University Hospital, Cork, Ireland
4Department of Clinical Neurophysiology, Cork University Hospital, Cork, Ireland
5National Centre for Inherited Metabolic Diseases, The Mater Misericordiae University Hospital, Dublin, Ireland
6Paediatrics Department, Trinity College, Dublin, Ireland
7University College Dublin, Dublin, Ireland

Tóm tắt

AbstractLipin‐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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JIMD Reports

Tập 46 Số 1

4-10

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