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Copyright V. Ventruto / A. Di Luccio Genus database 16811 mitochondrial respiratory chain complex IV defect with de Toni-Fanconi-Debre Eponyms: Inheritance: autosomal recessive Semeiological Metabolic disorder, isolated defect. Neonatal onset; lactic acidosis, lethargy, hypotonia, myopathy, respiratory failure, renal dysfunction resembling early-onset cystinosis. Synthesis: Group Sub group Signs: CARDIOVASCULAR DISORDERS cardiac congenital defects heart conduction defects, cardiac arrhythmia, including tachycardia, atrial fibrillation, ventricular fibrillation LABORATORY DATA biochemical markers metabolic defect foetal-amniotic biochemical data cytochrome C oxidase, low activity (foetal) plasma nonprotein-organic constituents, anomalies lactic acidosis, lacticacidemia uric acid, high levels, hyperuricemia plasma proteins, anomalies organic acid disorders tissue, biochemical changes cytocrhome c oxidase, low activity lethality, in metabolic/immunological/environmental disorders metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis mitochondrial defects mitochondrial respiratory chain complex IV defect urine, constituent changes aminoaciduria glycosuria, glucosuria, other carbohydrates hypercalciuria hyperphosphaturia proteinuria, albuminuria 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 intracranial calcification (calcinosis) including: basal ganglia, falx cerebri calcification performance changes, not including mental retardation stupor, lethargy, including coma OCULAR DISORDERS eye, motility defects nystagmus OTHERS inheritance inheritance, autosomal recessive supergroups cardio-neuro-skeletal disorders mitochondrial respiratory chain complex IV defect with de Toni-Fanconi-Debre Page 1 of 3 Copyright V. Ventruto / A. Di Luccio Genus database PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data prenatal diagnosis prenatal diagnosis, metabolic RESPIRATORY DISORDERS respiratory distress respiratory distress, including asthma SKELETAL DISORDERS stature, growth, modified habitus growth delayed, failure to thrive, growth retardation UROLOGICAL DISORDERS renal dysfunctions renal failure, including: nephritis, pyelonephritis, glomerulonephritis Super group: cardio-neuro-skeletal disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: LETHALITY lethality, in metabolic/immunological/environmental disorders 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 mitochondrial fatty-acid oxidation disorders (FATMO disorders) mitochondrial respiratory chain complex MUSCULAR DISORDERS muscular dystrophy, myopathy Differential diagnosis: 28619 8845 9107 945 28673 13825 14560 28497 28660 14755 16220 7496 28498 16805 29301 28798 16806 16807 16808 16809 27963 28656 7608 7492 Cormier-Daire syndrome cytochrome c oxydase deficiency GRACILE syndrome hepatoencephalopathy, fatal Kamijo disease Kearns-Sayre syndrome Leigh disease, autosomal recessive Leigh disease, X-linked Leigh syndrome, French-Canadian type leukodystrophy perinatal sudanophilic Menkes syndrome mitochondrial DNA depletion syndrome mitochondrial myopathy, lethal infantile mitochondrial respiratory chain complex I defect mitochondrial respiratory chain complex I defect, subunit 4 mitochondrial respiratory chain complex I defect, subunit 6 mitochondrial respiratory chain complex II defect mitochondrial respiratory chain complex III defect mitochondrial respiratory chain complex IV defect mitochondrial respiratory chain complex IV defect, benign infantile Moreadith syndrome oxoglutaricaciduria Roe disease spinal muscular atrophy, Mellins-Bertini type mitochondrial respiratory chain complex IV defect with de Toni-Fanconi-Debre Page 2 of 3 Copyright V. Ventruto / A. Di Luccio Genus database 28241 Szabolcs syndrome Aggregation(s) [in differential diagnosis]: - lethality, in neuromuscular disorders - metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis - mitochondrial respiratory chain complex Bibliography OMIM ID: 220110 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 167 mitochondrial respiratory chain complex IV defect with de Toni-Fanconi-Debre Page 3 of 3
