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MELAS, Myoclonus, Ataxia and Deficiencies of Complexes I and IV in Muscle Mitochondria
Author(s) -
Yamanaka Reiko,
Nomura Yoshiko,
Segawa Masaya,
aka Ikuya
Publication year - 1987
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1987.tb00375.x
Subject(s) - medicine , myoclonus , muscle biopsy , cytochrome c oxidase , cerebellar ataxia , ataxia , mitochondrial myopathy , mitochondrion , pathology , gastroenterology , endocrinology , biopsy , biochemistry , anesthesia , psychiatry , chemistry , mitochondrial dna , gene
A 13‐year‐old Japanese girl developed convulsions, periodic attacks of coma with hyperpyrexia, visual disturbance, aphasia, myoclonus, cerebellar symptoms and dementia. A muscle biopsy four years previously had shown ragged‐red fibers. Biochemical studies showed NADH CoQ reductase and cytochrome c oxidase deficiencies in biopsied muscle at 13 years of age, although normal activity of cytochrome c oxidase had been histochemically detected at 9 years of age. A therapeutic trial of citrate administration produced transient improvement in the clinical features and in the hyperlactic and pyruvic acidemia.