Evidence for autosomal recessive inheritance in systemic carnitine deficiency

S. Di Donato, M. Rimoldi, F. Cornelio, E. Bottacchi, A. Giunta

Research output: Contribution to journalArticlepeer-review

Abstract

Identical twin girls died at age 3 years from acute episodes of metabolic encephalopathy reminiscent of Reye syndrome. Biochemical studies in one of the twins demonstrated low levels of carnitine in muscle, liver, and plasma. Carnitine content was low in the liver and plasma of both parents, implying autosomal recessive transmission.

Original languageEnglish
Pages (from-to)190-192
Number of pages3
JournalAnnals of Neurology
Volume11
Issue number2
Publication statusPublished - 1982

ASJC Scopus subject areas

  • Neuroscience(all)

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