Literature DB >> 487329

Cold induced rhabdomyolysis in carnitine palmyityl transferase deficiency.

A K Brownell, D L Severson, C D Thompson, T Fletcher.   

Abstract

A case of carnitine palmityl transferase deficiency in skeletal muscle is described. The usual symptoms associated with this disease (recurrent muscle cramps or pain and pigmenturia) were observed but sudden exposure to cold precipitate rhabdomyolysis in this patient.

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Year:  1979        PMID： 487329     DOI： 10.1017/s0317167100024033

Source DB:  PubMed          Journal:  Can J Neurol Sci        ISSN： 0317-1671            Impact factor:   2.104


  6 in total

1.  Potential role of carnitine in patients with renal insufficiency.

Authors:  C Wanner; W H Hörl
Journal:  Klin Wochenschr       Date:  1986-07-01

2.  Vascular and myofibrillar lesions in acute myoglobinuria associated with carnitine-palmityl-transferase deficiency.

Authors:  J Mantz; C Hindelang; J M Mantz; M E Stoeckel
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1992

3.  Carnitine palmitoyl transferase deficiency with an atypical presentation and ultrastructural mitochondrial abnormalities.

Authors:  M P Carey; K Poulton; C Hawkins; R P Murphy
Journal:  J Neurol Neurosurg Psychiatry       Date:  1987-08       Impact factor: 10.154

Review 4.  Rhabdomyolysis caused by carnitine palmitoyltransferase 2 deficiency: A case report and systematic review of the literature.

Authors:  Nicholas Ivin; Valentina Della Torre; Francis Sanders; Matthew Youngman
Journal:  J Intensive Care Soc       Date:  2019-12-18

5.  Biochemical evidence for heterozygosity in muscular carnitine palmitoyltransferase deficiency.

Authors:  S Zierz; R R Mundegar; F Jerusalem
Journal:  Clin Investig       Date:  1993-12

6.  CPT1α maintains phenotype of tubules via mitochondrial respiration during kidney injury and repair.

Authors:  Qi Yuan; Yunhui Lv; Hao Ding; Qingqing Ke; Caifeng Shi; Jing Luo; Lei Jiang; Junwei Yang; Yang Zhou
Journal:  Cell Death Dis       Date:  2021-08-14       Impact factor: 8.469
  6 in total

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