J Neurol. 1991 Sep;238(6):323-4.

Myoglobinuria and carnitine palmityl transferase deficiency in father and son.

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

Source

Paolo Peirolo Centre for Neuromuscular Disease, University of Turin, Italy.

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).

PMID:: 1940982; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

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Case Reports

MeSH Terms

Substances

Carnitine O-Palmitoyltransferase

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Related citations in PubMed

Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal-recessive inheritance. [Neurology. 1981]
Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal-recessive inheritance.
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