Biochemical and clinical findings in the first two cases of glutaric aciduria type I in the Philippines
- Author:
Fodra Esphie Grace D.
;
Lanot Vanessa O.
;
Balansay Lorena S.
;
Chiong Mary Anne D.
- Publication Type:Case Reports
- MeSH:
Human;
Male;
Female;
Child Preschool;
Infant;
MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY;
CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ABNORMALITIES;
GENETIC DISEASES, INBORN;
METABOLISM, INBORN ERRORS;
AMINO ACID METABOLISM, INBORN ERRORS
- From:
Acta Medica Philippina
2011;45(4):70-72
- CountryPhilippines
- Language:English
-
Abstract:
We report the first two diagnosed cases of Glutaric Aciduria Type I (GA I) in the Philippines. The diagnosis was confirmed by urinary organic acid analysis by Gas Chromatography-Mass Spectrometry (GC-MS) which showed the characteristic metabolites for GA I. Review of their clinical features showed macrocephaly, developmental delay, seizures, dystonia and choreoathetotic posturing. Cranial CT scan findings were also compatible with previously reported cases. This paper emphasizes the usefulness of locally available biochemical tools in the diagnosis of inborn errors of metabolism as well as the importance of clinical recognition of these disorders.
