Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Orpha code: 314637OMIM code: 614702

Definition

A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

Disease data
Classification

Disease

Synonyms
COXPD10
COXPD10
Złożony defekt fosforylacji oksydacyjnej typu 10
Combined oxidative phosphorylation defect type 10
ORPHA code
314637
OMIM code
614702
ICD10 code
E88.8
ICD11 code
-

No additional description.

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