Familial recurrent rhabdomyolysis due to carnitine palmityl transferase deficiency

Bernard M. Patten, Jeanie M. Wood, Yadollah Harati, Patrick Hefferan, R. Rodney Howell

Research output: Contribution to journalArticlepeer-review

35 Scopus citations


Muscle carnitine palmityltransferase (CPT) activity was very low (0 to 14 per cent of controls) in two brothers with a syndrome of recurrent rhabdomyolysis and myoglobulinuria. In isolated muscle mitochondria the majority (87.5 per cent) of total measurable CPT enzyme activity could be attributed to external membrane CPT with severe deficiency of inner membrane CPT. By contrast, control mitochondria demonstrated a 1:1 distribution of external membrane CPT to inner membrane CPT. Thus, myoglobinuria may be due to a genetic defect of lipid metabolism in skeletal muscle, with inner membrane CPT deficiency presenting the same clinical features as external membrane CPT deficiency.

Original languageEnglish (US)
Pages (from-to)167-171
Number of pages5
JournalThe American journal of medicine
Issue number1
StatePublished - Jul 1979
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)


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