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Barth syndrome presenting with acute metabolic decompensation in the neonatal period
Author(s) -
Donati Maria Alice,
Malvagia Sabrina,
Pasquini Elisabetta,
Morrone Amelia,
Marca Giancarlo La,
Garavaglia Barbara,
Toniolo Daniela,
Zammarchi Enrico
Publication year - 2006
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-006-0388-7
Subject(s) - lethargy , hypotonia , medicine , metabolic acidosis , pediatrics , mitochondrial disease , cardiomyopathy , gene mutation , endocrinology , gastroenterology , mutation , genetics , mitochondrial dna , biology , heart failure , gene
Summary 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.