Barth syndrome presenting with acute metabolic decompensation in the neonatal period.

Maria Alice Donati, Sabrina Malvagia, Elisabetta Pasquini, Amelia Morrone, Giancarlo La Marca, Barbara Garavaglia, Daniela Toniolo, Enrico Zammarchi

Research output: Contribution to journalArticlepeer-review

Abstract

We describe two patients affected by Barth syndrome. Their symptoms became manifest on respectively the third and first day of their lives. Clinical presentation included poor sucking, lethargy, hypotonia, hypothermia and cardiomyopathy. Laboratory findings such as hypoglycaemia, metabolic acidosis, elevated transaminases, hyperlactacidaemia and mild hyperammonaemia pointed to an inborn error of energy metabolism with possible mitochondrial involvement. Molecular analysis of the TAZ (G4.5) gene showed the c.877G > A mutation leading to the G197R amino acid substitution in patient 1, and the new splice donor c.829 + 1G > A genetic lesion in patient 2.

Original languageEnglish
Pages (from-to)684
Number of pages1
JournalJournal of Inherited Metabolic Disease
Volume29
Issue number5
Publication statusPublished - Oct 2006

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

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