Mitochondrial respiratory chain disorder in two Filipino children
Acta Medica Philippina
; : 76-80, 2011.
Article
in En
| WPRIM
| ID: wpr-631855
Responsible library:
WPRO
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.
Full text:
1
Database:
WPRIM
Main subject:
Mitochondrial Diseases
/
Metabolic Diseases
/
Nutritional and Metabolic Diseases
Limits:
Female
/
Humans
Language:
En
Journal:
Acta Medica Philippina
Year:
2011
Document type:
Article