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.
journal_name
J Inherit Metab Disjournal_title
Journal of inherited metabolic diseaseauthors
Donati MA,Malvagia S,Pasquini E,Morrone A,La Marca G,Garavaglia B,Toniolo D,Zammarchi Edoi
10.1007/s10545-006-0388-7subject
Has Abstractpub_date
2006-10-01 00:00:00pages
684issue
5eissn
0141-8955issn
1573-2665journal_volume
29pub_type
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abstract:: ...
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