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Copyright V. Ventruto / A. Di Luccio Genus database 8845 cytochrome c oxydase deficiency cardioencephalomyopathy, fatal infantile Eponyms: Inheritance: autosomal recessive Semeiological Cardio-metabolic-neurological disorder. Onset at birth. Encephalopathy, hypertrophic cardiomyopathy, lactic acidosis. Synthesis: Group Sub group Signs: CARDIOVASCULAR DISORDERS cardiac congenital defects cardiomyopathy mitochondrial cardiomyopathy LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 22q localization gene, structural-functional anomalies gene analysis-DNA analysis SCO2, gene chr.22q13 plasma nonprotein-organic constituents, anomalies lactic acidosis, lacticacidemia mitochondrial fatty-acid oxidation disorders plasma proteins, anomalies organic acid disorders tissue, biochemical changes lethality, in metabolic/immunological/environmental disorders metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis MUSCULAR DISEASES muscular defects, distrectual lethality, in neuromuscular disorders systemic muscular defects hypotonia, muscular weakness, muscular hypoplasia, myastenia, not including atyrophy muscular dystrophy, myopathy NEUROLOGICAL DISORDERS brain anomalies brain hypodeveloped, brain atrophy, brain degeneration, encephalopathy, including cerebral palsy OTHERS inheritance inheritance, autosomal recessive RESPIRATORY DISORDERS respiratory distress respiratory distress, including asthma Super group: cardio-neuro disorders Super aggreg. LETHALITY lethality, in metabolic/immunological/environmental disorders Aggregations: lethality, in neuromuscular disorders vomit, lethargy, hypotonia, other features including some metabolic defects without dysmorphism/malform METABOLIC DISORDERS metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis organic acid disorders MITOCHONDRIAL DISORDERS cytochrome c oxydase deficiency Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database mitochondrial fatty-acid oxidation disorders (FATMO disorders) mitochondrial myopathies, cardiomyopathies, encephalomyopathies MUSCULAR DISORDERS muscular dystrophy, myopathy 16808 mitochondrial respiratory chain complex IV defect 16811 mitochondrial respiratory chain complex IV defect with de Toni-Fanconi-Debre 16809 mitochondrial respiratory chain complex IV defect, benign infantile 8152 multiple mitochondrial dysfunctions syndrome 17635 myopathy, metabolic cytochrome c-oxidase deficiency Differential diagnosis: Bibliography OMIM ID: 604377 Hum.Molec.Genet.9,795-801,2000 Nature Genet.23,333-337,1999 OMIM ID: 604272 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.22852295,2007 cytochrome c oxydase deficiency Page 2 of 2
