Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Myoglobinuria and carnitine palmityl transferase deficiency in father and son.

Literature DB >> 1940982

Myoglobinuria and carnitine palmityl transferase deficiency in father and son.

T Mongini¹, C Doriguzzi, L Palmucci, L Chiadò-Piat, M Maniscalco, D Schiffer.

Abstract

A 18-year-old man had recurrent myoglobinuria following exercise and fasting. His parents originated from the same village, which has less than 1000 inhabitants. His 53-year-old father suffered from similar episodes, whereas his mother and elder brother were symptom free. Biochemical investigations on muscle and platelets disclosed carnitine palmityl transferase (CPT) deficiency in the patient and his father. His mother and brother showed intermediate CPT values consistent with their being heterozygotes. This appears to be the first report of CPT deficiency with recurrent myoglobinuria in two generations (so-called quasidominant transmission).

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1991 PMID： 1940982 DOI： 10.1007/bf00315330

Source DB: PubMed Journal: J Neurol ISSN： 0340-5354 Impact factor: 4.849

12 in total

1. PALMITYL-COA:CARNITINE PALMITYLTRANSFERASE. PURIFICATION FROM CALF-LIVER MITOCHONDRIA AND SOME PROPERTIES OF THE ENZYME.

Authors: K R NORUM
Journal: Biochim Biophys Acta Date: 1964-07-08

2. Chronic myopathy with a partial deficiency of the carnitine palmityltransferase enzyme.

Authors: R I Kieval; A Sotrel; M E Weinblatt
Journal: Arch Neurol Date: 1989-05

3. Are there two forms of carnitine palmitoyltransferase in muscle?

Authors: S Zierz; A G Engel
Journal: Neurology Date: 1987-11 Impact factor: 9.910

4. A new method for myofibrillar Ca++-ATPase reaction based on the use of metachromatic dyes: its advantages in muscle fibre typing.

Authors: C Doriguzzi; T Mongini; L Palmucci; D Schiffer
Journal: Histochemistry Date: 1983

5. 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

6. Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes.

Authors: H R Scholte; F G Jennekens; J J Bouvy
Journal: J Neurol Sci Date: 1979-01 Impact factor: 3.181

Myoglobinuria and carnitine palmityl transferase deficiency in father and son.

1. PALMITYL-COA:CARNITINE PALMITYLTRANSFERASE. PURIFICATION FROM CALF-LIVER MITOCHONDRIA AND SOME PROPERTIES OF THE ENZYME.

2. Chronic myopathy with a partial deficiency of the carnitine palmityltransferase enzyme.

3. Are there two forms of carnitine palmitoyltransferase in muscle?

4. A new method for myofibrillar Ca++-ATPase reaction based on the use of metachromatic dyes: its advantages in muscle fibre typing.

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

6. Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes.

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

8. Muscle carnitine palmityltransferase deficiency and myoglobinuria.

9. Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets.

10. Myoglobinuria: presentation of personal cases and review of the literature.

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

2. Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy.