Carnitine palmityl transferase deficiency: Clinical variability, carrier detection, and autosomal-recessive inheritance

Corrado Angelini, Lorenza Freddo, Pierantonio Battistella, Nereo Bresolin, Sandra Pierobon-Bormioli, Mario Armani, Ludovica Vergani

Research output: Contribution to journalArticle

49 Citations (Scopus)

Abstract

A 21-year-old man had recurrent myoglobinuria; his 28-year-old sister had symptoms of fatigability. During prolonged fasting, serum free fatty acid rose in both siblings, but only the sister produced ketone bodies and had elevated creatine phosphokinase activity. Carnitine palmityl transferase (CPT) activity was less than 30% of normal in muscle and platelets. Liver biopsy disclosed a low level of the enzyme in the brother. The parents had intermediate levels of the enzyme in platelets. CPT deficiency seems to have an autosomal-recessive pattern of inheritance and a variable phenotypic expression.

Original languageEnglish
Pages (from-to)883-886
Number of pages4
JournalNeurology
Volume31
Issue number7
Publication statusPublished - 1981

Fingerprint

Carnitine
Transferases
Siblings
Blood Platelets
Ketone Bodies
Inheritance Patterns
Enzymes
Creatine Kinase
Nonesterified Fatty Acids
Fasting
Parents
Biopsy
Muscles
Carrier
Sister
Liver
Serum
Brothers
Intermediate
Fatty Acids

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

Cite this

Angelini, C., Freddo, L., Battistella, P., Bresolin, N., Pierobon-Bormioli, S., Armani, M., & Vergani, L. (1981). Carnitine palmityl transferase deficiency: Clinical variability, carrier detection, and autosomal-recessive inheritance. Neurology, 31(7), 883-886.

Carnitine palmityl transferase deficiency : Clinical variability, carrier detection, and autosomal-recessive inheritance. / Angelini, Corrado; Freddo, Lorenza; Battistella, Pierantonio; Bresolin, Nereo; Pierobon-Bormioli, Sandra; Armani, Mario; Vergani, Ludovica.

In: Neurology, Vol. 31, No. 7, 1981, p. 883-886.

Research output: Contribution to journalArticle

Angelini, C, Freddo, L, Battistella, P, Bresolin, N, Pierobon-Bormioli, S, Armani, M & Vergani, L 1981, 'Carnitine palmityl transferase deficiency: Clinical variability, carrier detection, and autosomal-recessive inheritance', Neurology, vol. 31, no. 7, pp. 883-886.
Angelini C, Freddo L, Battistella P, Bresolin N, Pierobon-Bormioli S, Armani M et al. Carnitine palmityl transferase deficiency: Clinical variability, carrier detection, and autosomal-recessive inheritance. Neurology. 1981;31(7):883-886.
Angelini, Corrado ; Freddo, Lorenza ; Battistella, Pierantonio ; Bresolin, Nereo ; Pierobon-Bormioli, Sandra ; Armani, Mario ; Vergani, Ludovica. / Carnitine palmityl transferase deficiency : Clinical variability, carrier detection, and autosomal-recessive inheritance. In: Neurology. 1981 ; Vol. 31, No. 7. pp. 883-886.
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