Combined oxidative phosphorylation defect type 9

Orpha code: 319509OMIM code: 614582

Definition

Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.

Disease data
Classification

Disease

Synonyms
COXPD9
COXPD9
ORPHA code
319509
OMIM code
614582
ICD10 code
E88.8
ICD11 code
-

No additional description.

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