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Literature DB >> 3655814

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

M P Carey¹, K Poulton, C Hawkins, R P Murphy.

Abstract

A case of carnitine palmitoyl transferase deficiency presenting in a 72 year old woman with the clinical picture of ophthalmoplegia plus other muscle weakness is reported. Histological and ultrastructural examination showed the features of a mitochondrial myopathy.

Entities: Disease Species

Mesh：

Substances：

Year: 1987 PMID： 3655814 PMCID： PMC1032239 DOI： 10.1136/jnnp.50.8.1060

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

12 in total

1. Enzymatic synthesis of the coenzyme A derivatives of long chain fatty acids.

Authors: A KORNBERG; W E PRICER
Journal: J Biol Chem Date: 1953-09 Impact factor: 5.157

2. Different ketogenic response to medium-chain triglycerides and to long-chain triglycerides in a case of muscular carnitine palmitoyltransferase deficiency.

Authors: N Sugiyama; Y Wada; H Morishita; I Nonaka
Journal: J Inherit Metab Dis Date: 1982 Impact factor: 4.982

3. Recurrent exertional myalgia and myoglobinuria due to carnitine palmityltransferase deficiency.

Authors: Z Argov; S DiMauro
Journal: Isr J Med Sci Date: 1983-06

4. [Primary cardiomyopathy in children with lipid infiltration of the myocardium and skeletal muscles and demonstration of a palmityl-carnitine transferase deficiency. Apropos of 4 cases].

Authors: J Normand; H Carrier; G Berthillier; A Bozio; D Jocteur-Monrozier; M André; B Joffre
Journal: Arch Mal Coeur Vaiss Date: 1979-05

5. Cold induced rhabdomyolysis in carnitine palmyityl transferase deficiency.

Authors: A K Brownell; D L Severson; C D Thompson; T Fletcher
Journal: Can J Neurol Sci Date: 1979-08 Impact factor: 2.104

6. Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal-recessive inheritance.

Authors: C Angelini; L Freddo; P Battistella; N Bresolin; S Pierobon-Bormioli; M Armani; L Vergani
Journal: Neurology Date: 1981-07 Impact factor: 9.910

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

1. Enzymatic synthesis of the coenzyme A derivatives of long chain fatty acids.

2. Different ketogenic response to medium-chain triglycerides and to long-chain triglycerides in a case of muscular carnitine palmitoyltransferase deficiency.

3. Recurrent exertional myalgia and myoglobinuria due to carnitine palmityltransferase deficiency.

4. [Primary cardiomyopathy in children with lipid infiltration of the myocardium and skeletal muscles and demonstration of a palmityl-carnitine transferase deficiency. Apropos of 4 cases].

5. Cold induced rhabdomyolysis in carnitine palmyityl transferase deficiency.

6. Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal-recessive inheritance.

7. [Myocardiopathy with lipid overload and leukocyte palmityl carnitine transferase (PCT) deficiency].

8. Muscle carnitine palmityltransferase deficiency and myoglobinuria.

9. Familial recurrent rhabdomyolysis due to carnitine palmityl transferase deficiency.

10. Carnitine palmityl transferase deficiency: myoglobinuria and respiratory failure.

1. Carnitine palmitoyltransferase deficiency.

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