Barth syndrome presenting with acute metabolic decompensation in the neonatal period.
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.
Donati
Maria Alice
MA
Metabolic and Muscular Unit, Department of Pediatrics, University of Florence, AOU-Meyer, Florence, Italy.
Malvagia
Sabrina
S
Pasquini
Elisabetta
E
Morrone
Amelia
A
La Marca
Giancarlo
G
Garavaglia
Barbara
B
Toniolo
Daniela
D
Zammarchi
Enrico
E
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
D000637:Transaminases