Mitochondrial respiratory chain disorder in two Filipino children
- Author:
Chiong Mary Anne D.
;
David-Padilla Carmencita
- Publication Type:Case Reports
- MeSH:
Human;
Female;
MITOCHONDRIAL DISEASES;
NUTRITIONAL AND METABOLIC DISEASES;
METABOLIC DISEASES
- From:
Acta Medica Philippina
2011;45(4):76-80
- CountryPhilippines
- Language:English
-
Abstract:
Mitochondrial respiratory chain disorders have very diverse manifestations and can present with any symptom, in any organ at any time. Here we describe two Filipino children confirmed to have a mitochondrial respiratory chain disorder after presenting with non-specific neurologic symptoms. The first patient had Otahara syndrome and was later on found to have complex I deficiency. The second patient had the m.8993T>G mtDNA mutation that was consistent with a Leigh phenotype.
