Literature DB >> 7189025

Carnitine palmityl transferase deficiency: myoglobinuria and respiratory failure.

T Bertorini, Y Y Yeh, C Trevisan, E Stadlan, S Sabesin, S DiMauro.   

Abstract

A 51-year-old man presented with acute respiratory failure and myoglobinuria precipitated by an infection. Carnitine palmityltransferase (CPT) deficiency was documented in muscle, leukocytes, and liver. The enzyme defect in liver, previously suspected and now documented, explained the decreased production of ketone bodies during fasting observed in this patient as well as others with muscle CPT deficiency. Decreased utilization of long-chain fatty acids and decreased availability of ketone bodies can deprive the muscle of crucial sources of energy and, in certain conditions, may precipitate myoglobinuria.

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Year:  1980        PMID： 7189025     DOI： 10.1212/wnl.30.3.263

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  13 in total

1.  Recurrent rhabdomyolysis and acute respiratory failure due to carnitine palmityltransferase deficiency.

Authors:  K H Smolle; P Kaufmann; R Gasser
Journal:  Intensive Care Med       Date:  2001-07       Impact factor: 17.440

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

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

3.  Myopathy with abnormal mitochondria, transient low electron transport capacity in the respiratory chain, and absence of energy transduction at sites 1 and 2 in vitro.

Authors:  U Trockel; H R Scholte; K V Toyka; H F Busch; I E Luyt-Houwen; J A Berden
Journal:  J Neurol Neurosurg Psychiatry       Date:  1986-06       Impact factor: 10.154

4.  Acute rhabdomyolysis with carnitine-palmityl-transferase deficiency.

Authors:  P L Blanc; H Carrier; L Thomas; J M Chavaillon; D Robert
Journal:  Intensive Care Med       Date:  1982       Impact factor: 17.440

Review 5.  Defects of fatty acid oxidation in skeletal muscle.

Authors:  D M Turnbull; K Bartlett; N J Watmough; I M Shepherd; H S Sherratt
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

6.  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

7.  Long-term management of acute respiratory failure in metabolic myopathy.

Authors:  G Pfeiffer; G Winkler; P Neunzig; W Wolf; G Thayssen; K Kunze
Journal:  Intensive Care Med       Date:  1996-12       Impact factor: 17.440

8.  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

9.  Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouse.

Authors:  Shaonin Ji; Yun You; Janos Kerner; Charles L Hoppel; Trenton R Schoeb; Wallace S H Chick; Doug A Hamm; J Daniel Sharer; Philip A Wood
Journal:  Mol Genet Metab       Date:  2007-11-19       Impact factor: 4.797

10.  Myoglobinuria: the importance of reaching a firm diagnosis--a patient with defective fatty acid oxidation.

Authors:  C J Ellis; A G Dewhurst; M Cooper; D P Brenton; J R Dathan
Journal:  Postgrad Med J       Date:  1990-03       Impact factor: 2.401
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