title: Barth syndrome presenting with acute metabolic decompensation in the neonatal period.
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.
authors.affiliation: Metabolic and Muscular Unit, Department of Pediatrics, University of Florence, AOU-Meyer, Florence, Italy.
authors.forename: Maria Alice
authors.initials: MA
authors.lastname: Donati
authors.forename: Sabrina
authors.initials: S
authors.lastname: Malvagia
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Pasquini
authors.forename: Amelia
authors.initials: A
authors.lastname: Morrone
authors.forename: Giancarlo
authors.initials: G
authors.lastname: La Marca
authors.forename: Barbara
authors.initials: B
authors.lastname: Garavaglia
authors.forename: Daniela
authors.initials: D
authors.lastname: Toniolo
authors.forename: Enrico
authors.initials: E
authors.lastname: Zammarchi
mesh_terms: D000208:Acute Disease; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D009135:Muscular Diseases / Q000235:genetics; D009154:Mutation; D013577:Syndrome; D000637:Transaminases / Q000096:biosynthesis
chemical_list: D000637:Transaminases