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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 4385 carnitine deficiency, systemic Eponyms: Inheritance: carnitine deficiency due to defect in carnitine uptake carnitine deficiency due to renal reabsorption defect carnitine deficiency primary autosomal recessive Semeiological Metabolic disorder, isolated defect. Failure to thrive, myopathic muscle weakness, hepatomegaly, cardiomyopathy, low carnitine concentrations in liver and serum, hypoglycemia, aciduria. Synthesis: Group Sub group Signs: CARDIOVASCULAR DISORDERS cardiac congenital defects cardiomegaly cardiomyopathy mitochondrial cardiomyopathy GASTROINTESTINAL DISORDERS liver dysfunctions, liver anomalies liver, acute/chronic dysfunction, fatty liver, steatosis, including liver enlarged HEMOPOIETIC-LYMPHORETICULAR SYSTEM DISORDERS spleen, anomalies splenomegaly, hepatosplenomegaly LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 5q localization gene, structural-functional anomalies gene analysis-DNA analysis SLC22A5 (OCTN2) (CDSP) (SCD), gene chr.5q33.1 plasma nonprotein-organic constituents, anomalies beta-hydroxy-gamma-trimethylaminobutyric acid, defect hypoglycemia mitochondrial fatty-acid oxidation disorders tissue, biochemical changes CPT, low activity fatty acid oxidation defect metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis mitochondrial defects muscular biochemical changes visceral biochemical changes urine, constituent changes organic aciduria MUSCULAR DISEASES systemic muscular defects hypotonia, muscular weakness, muscular hypoplasia, myastenia, not including atyrophy muscular dystrophy, myopathy NEUROLOGICAL DISORDERS performance changes, not including mental retardation stupor, lethargy, including coma OTHERS inheritance inheritance, autosomal recessive carnitine deficiency, systemic Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database supergroups gastrointestinal-hemato-urological disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data prenatal diagnosis prenatal diagnosis, molecular UROLOGICAL DISORDERS renal dysfunctions renal failure, including: nephritis, pyelonephritis, glomerulonephritis Super group: gastrointestinal-hemato-urological disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data 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 Differential diagnosis: Bibliography carnitine deficiency, systemic 599 acyl-CoA dehydrogenase deficiency, long chain 28483 carnitine palmitoyltransferase II deficiency, lethal infantile form 27883 carnitine-acylcarnitine translocase deficiency 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: 212140 OMIM ID: 603377 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.22852295,2007 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 161 Page 2 of 2
