Disease Information for Cytochrome C Oxidase Deficiency/COX Complex Defect

Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Anorexia Decreased appetite
Vomiting in infancy
Vomiting recurrent
Tongue Protrudes Infant
Delay Sitting Unsupported Infant
Mouth Hangs Open Infant
Muscle tone/decreased
Muscle weakness
Muscles Soft/Doughy Infant
Rolling Over Delay Infant
Babkin infant sign/Abnormal
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Infant Head Support Delay
Infant Seizures
Irritability/short tempered
Moro reflex Poor/Absent Infant
Newborn/Infant jittery/jitters
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Progressive neurological disorder/signs
Rooting infant sign/Abnormal
Seizures Newborn
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Weakness/Diffuse motor loss
Shallow Breathing Infant
Pseudoparalysis/infants/Melalgia sign
Episodic symptoms/events
Infant peevish/irritable/fretful
Infants sicker than older children
Spells/Episodes of weakness
Ptosis (blepharoptosis)
Typical Clinical Presentation
Stroke syndrome kids/metabolic causes
Clinical Presentation & Variations
Presentation/Non diabetic Ketoacidosis Kids infants
Presentation/Progressive CNS degeneration Acidosis Myopathy Liver Child
Presentation/Progressive dementia Child Infant
Disease Progression
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Sex & Age Groups
Population/Child-Infant Only
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Enzyme Assay plasma/tissue/fibroblast abnormal
Lactate/pyruvate ratio high (plasma) (Lab)
Mitochondrial DNA analysis defect
Abnormal Lab Findings - Increased
Lactic acid/Lactate (Lab)
Diagnostic Test Results
BX/Liver biopsy/EM/Mitochondrial morphology changes
BX/Muscle/Cytochrome oxidase negative fibers
Associated Diseases & Rule outs
Rule Outs
French-Canadian type Cox Deficiency
Associated Disease & Complications
Acidosis, metabolic
Benign infantile mitochondrial myopathy COX defect
Coma in Children
Cytochrome C Oxidase Deficiency/Mitochondrial
Developmental neurologic degeneration/child
Infantile mitochondrial myopathy/COX defect
Lactic acidosis
Metabolic encephalopathy
Metabolic Myopathy
Mitochondrial myopathy
Neonatal Hypotonia/Floppy Baby Syndrome
Vomiting Excess/Chronic
Lactic acidosis kids/primary
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
Pathophysiology/Mitochondrial oxidative respiratory chain defect
Pathophysiology/Multisystem disease
Pathophysiology/Muscle/Heart/Liver/Brain congenital
Pathophysiology/Metabolic myopathy (ex)
Pathophysiology/Mitochondrial encephalomyopathy
Pathophysiology/Mitochondrial lesion
PROCESS/Autosomal Recessive Incomplete Penetrance
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Metabolic/storage disorder (category)
Complex IV deficiency, COX Cytochrome C oxidase deficiency, COX Cytochrome C oxidase defic, COX DEFICIENCY, CYTOCHROME C OXIDASE DEFIC, Cytochrome C oxidase deficien, Cytochrome c Oxidase Deficiencies, Cytochrome C oxidase deficiency, Cytochrome C oxidase deficiency (disorder), CYTOCHROME OXIDASE DEFIC, Cytochrome Oxidase Deficiencies, Cytochrome Oxidase Deficiency, DEFIC CYTOCHROME OXIDASE C, Deficiencies Cytochrome c Oxidase, Deficiencies Cytochrome Oxidase, Deficiency Cytochrome c Oxidase, Deficiency Cytochrome Oxidase, Deficiency of cytochrome a3, Deficiency of cytochrome aa3, Deficiency of cytochrome c oxidase, Deficiency of cytochrome c oxidase (disorder), Deficiency of cytochrome oxidase, MITOCHONDRIAL COMPLEX IV DEFICIENCY, MTCO1*COX6480A, Oxidase Deficiencies Cytochrome, Oxidase Deficiencies Cytochrome c, Oxidase Deficiency Cytochrome, Oxidase Deficiency Cytochrome c, Synonym/Complex IV Respiratory chain defect, Synonym/COX Deficiency, Synonym/COX Deficiency (type 1,2,4) var, Synonym/Cox Deficiency French-Canadian type/Var, Synonym/COX Deficiency type III/Leighs var, Synonym/Cytochrome C oxidase deficiency (COX) variant, Synonym/De Toni-Fanconi syndrome, Synonym/de Toni-Fanconi-Debre COX def/ var, Synonym/Kearns-Sayre Mitochondrial Myopathy, Synonym/Lysosomal Cytochome Oxidase deficiency, Synonym/Lysozymal flavinoid Oxidative Deficiency, Synonym/Respiratory chain disorders (Complex I,II,II,IV,V)

Cytochrome C Oxidase Deficiency [Lysozyme Cytochrome Oxidase Deficiency]; Cox deficiency; deficiency of mitochondrial respiratory chain complex IV; Complex IV deficiency disorder; divisions into:A) Benign infantile mitochondrial myopathy Cox Deficiency B)De toni-Fanconi-debre C)Leighs subacute necrotizing encephalopathy)D)French Canadian type COX deficiency----------------[Emedicine/MedlinePlus 2005]--------------

Cause of acidosis in kids stroke like syndromes complex 1, and complex 4, flavinoid defect; Clinical spectrum myopathy, heart muscle dis, renal disease; lactic acidosis; CNS mental motor developmental delays; autosomal recessive with sporatic mutations which may be dominant; mitochondrial DNA may be site of mutation but not usual; maternal inheritance then expected with milder forms;

Unclassified Cytochrome C Oxidase Deficiency diagnosis

will have myopathy, lactic acidosis, cardiac and mental retardation likely-----------[NIH/OMIM 2005]----------


External Links Related to Cytochrome C Oxidase Deficiency/COX Complex Defect
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)