Mitochondrial respiratory chain disorder in two Filipino children
Acta Medica Philippina
;
: 76-80, 2011.
Article
in English
| WPRIM
| ID: wpr-631855
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:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Mitochondrial Diseases
/
Metabolic Diseases
/
Nutritional and Metabolic Diseases
Limits:
Female
/
Humans
Language:
English
Journal:
Acta Medica Philippina
Year:
2011
Type:
Article
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