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Literature DB >> 2362895

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

C J Ellis¹, A G Dewhurst, M Cooper, D P Brenton, J R Dathan.

Abstract

A 52 year old man presented with myoglobinuria-induced acute renal failure requiring dialysis. Despite renal biopsy, the cause of the myoglobinuria was not established until he re-presented a year later with a milder episode. At this stage investigations, including a muscle biopsy, demonstrated a defect in fatty acid oxidation amenable to dietary and lifestyle advice. This report emphasizes the importance of reaching a definitive diagnosis in myoglobinuria.

Entities: Chemical Disease Species

Mesh：

Substances：

Year: 1990 PMID： 2362895 PMCID： PMC2429478 DOI： 10.1136/pgmj.66.773.235

Source DB: PubMed Journal: Postgrad Med J ISSN： 0032-5473 Impact factor: 2.401

13 in total

1. A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase.

Authors: W J Bank; S DiMauro; E Bonilla; D M Capuzzi; L P Rowland
Journal: N Engl J Med Date: 1975-02-27 Impact factor: 91.245

2. SERUM CREATINE PHOSPHOKINASE (CPK) ACTIVITY IN DISORDERS OF HEART AND SKELETAL MUSCLE.

Authors: J W HESS; R P MACDONALD; R J FREDERICK; R N JONES; J NEELY; D GROSS
Journal: Ann Intern Med Date: 1964-12 Impact factor: 25.391

3. Partial deficiency of muscle carnitine palmitoyltransferase with normal ketone production.

Authors: K Y Hostetler; C L Hoppel; J S Romine; J C Sipe; S R Gross; P A Higginbottom
Journal: N Engl J Med Date: 1978-03-09 Impact factor: 91.245

Review 4. Caloric homeostasis and disorders of fuel transport.

Authors: R J Havel
Journal: N Engl J Med Date: 1972-12-07 Impact factor: 91.245

5. The spectrum of rhabdomyolysis.

Authors: P A Gabow; W D Kaehny; S P Kelleher
Journal: Medicine (Baltimore) Date: 1982-05 Impact factor: 1.889

6. Combined partial deficiency of muscle carnitine palmitoyltransferase and carnitine with autosomal dominant inheritance.

Authors: V Ionasescu; G Hug; C Hoppel
Journal: J Neurol Neurosurg Psychiatry Date: 1980-08 Impact factor: 10.154

7. 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

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

1. A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase.

2. SERUM CREATINE PHOSPHOKINASE (CPK) ACTIVITY IN DISORDERS OF HEART AND SKELETAL MUSCLE.

3. Partial deficiency of muscle carnitine palmitoyltransferase with normal ketone production.

Review 4. Caloric homeostasis and disorders of fuel transport.

5. The spectrum of rhabdomyolysis.

6. Combined partial deficiency of muscle carnitine palmitoyltransferase and carnitine with autosomal dominant inheritance.

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

8. Recurrent myoglobinuria due to muscle carnitine palmityl transferase deficiency.

9. Muscle carnitine palmityltransferase deficiency and myoglobinuria.

10. Carnitine-palmityl-transferase deficiency.

1. Immunoperoxidase techniques and histology in the diagnosis of rhabdomyolysis related acute renal failure.