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Copyright V. Ventruto / A. Di Luccio Genus database 27883 carnitine-acylcarnitine translocase deficiency Eponyms: Inheritance: CAC CACT CATR autosomal recessive Semeiological Metabolic disorder, isolated defect. Cardiac failure, weakness, respiratory distress, hepatomegaly, neurological signs. Synthesis: Group Sub group Signs: CARDIOVASCULAR DISORDERS cardiac congenital defects cardiomyopathy heart conduction defects, cardiac arrhythmia, including tachycardia, atrial fibrillation, ventricular fibrillation heart conduction defects, cardiac arrhythmia, including: bradycardia, cardiac dysrhythmias mitochondrial cardiomyopathy peripheral vessels changes hypotension GASTROINTESTINAL DISORDERS liver dysfunctions, liver anomalies hepatomegaly, liver enlarged LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 3p localization plasma electrolytes-inorganic constituents, modified functions hyperammonemia plasma nonprotein-organic constituents, anomalies hypoglycemia mitochondrial fatty-acid oxidation disorders tissue, biochemical changes carnitine-acylcarnitine translocase, deficiency metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis mitochondrial defects urine, constituent changes homocitrullinuria MUSCULAR DISEASES systemic muscular defects hypotonia, muscular weakness, muscular hypoplasia, myastenia, not including atyrophy muscular dystrophy, myopathy NEUROLOGICAL DISORDERS brain anomalies microcephaly, microcrania neurological dysfunctions seizures, convulsions, epilepsy performance changes, not including mental retardation stupor, lethargy, including coma OROCRANIOFACIAL ANOMALIES facies, modified appearance facial dysmorphism due to cranial changes including microcephaly OTHERS inheritance carnitine-acylcarnitine translocase deficiency Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database inheritance, autosomal recessive PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by ultrasound techniques prenatal diagnosis prenatal diagnosis, echographic RESPIRATORY DISORDERS respiratory distress respiratory distress, including asthma Super group: Super aggreg. FOETAL CHANGES foetal changes, recognized by ultrasound techniques Aggregations: METABOLIC DISORDERS metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis MITOCHONDRIAL DISORDERS mitochondrial fatty-acid oxidation disorders (FATMO disorders) mitochondrial myopathies, cardiomyopathies, encephalomyopathies MUSCULAR DISORDERS muscular dystrophy, myopathy OTHER craniofacial dysmorphism due to cranial changes, including microcephaly Differential diagnosis: Bibliography 599 acyl-CoA dehydrogenase deficiency, long chain 4384 carnitine deficiency, myopathic type 4385 carnitine deficiency, systemic 9681 fibroelastosis, endocardial, left ventricle 10850 glutaricaciduria neonatal form type II 12573 hydroxyacyl-CoA dehydrogenase deficiency long chain 27800 hydroxyacyl-CoA dehydrogenase deficiency short chain OMIM ID: 212138 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 161 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.22852295,2007 carnitine-acylcarnitine translocase deficiency Page 2 of 2
