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Inborn Errors Of Metabolism Category




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2,4 Dienoyl-coa Reductase Deficiency 2-methylbutyryl-coa Dehydrogenase Deficiency 3-hydroxy-3-methylglutaryl-coa Lyase Deficiency
3-hydroxyacyl-coenzyme A Dehydrogenase Deficiency 3-methylcrotonyl-coa Carboxylase Deficiency 4-alpha-hydroxyphenylpyruvate Hydroxylase Deficiency
Acatalasia Acid Lipase Disease Adenosine Deaminase Deficiency
Aldolase A Deficiency Analbuminaemia Arakawas Syndrome Ii
Arginemia Argininosuccinic Aciduria Beta-ketothiolase Deficiency
Carbamoyl Phosphate Synthetase I Deficiency Carnitine-acylcarnitine Translocase Deficiency Carnitine Palmitoyltransferase I Deficiency
Carnitine Palmitoyltransferase Ii Deficiency Cholesteryl Ester Storage Disease Citrullinemia
Congenital Disorder Of Glycosylation Crigler-najjar Syndrome Dihydropyrimidine Dehydrogenase Deficiency
Disaccharidase Essential Fructosuria Fucosidosis
Fumarase Deficiency Galactose-1-phosphate Uridylyltransferase Galactosemia Galactosemia
Glutaric Aciduria Type 1 Glycine Encephalopathy Glycogen Storage Disease
Glycogen Storage Disease Type I Glycogen Storage Disease Type Ii Glycogen Storage Disease Type Iii
Glycogen Storage Disease Type V Guanidinoacetate Methyltransferase Deficiency Hereditary Fructose Intolerance
Histidinemia Holocarboxylase Synthetase Deficiency Hyperlysinemia
Hypermethioninemia Hyperprolinemia Idiosyncrasy
Inborn Error Of Metabolism Isobutyryl-coenzyme A Dehydrogenase Deficiency Isovaleric Acidemia
Krabbe Disease Lecithin Cholesterol Acyltransferase Deficiency Lesch-nyhan Syndrome
Lipid Storage Disorder List Of Amino Acid Metabolism Disorders List Of Fatty Acid Metabolism Disorders
Long-chain 3-hydroxyacyl-coenzyme A Dehydrogenase Deficiency Lysinuric Protein Intolerance Maple Syrup Urine Disease
Medium-chain Acyl-coenzyme A Dehydrogenase Deficiency Menkes Disease Metab-l
Methylmalonyl-coa Mutase Deficiency Mevalonic Aciduria Mitochondrial Trifunctional Protein Deficiency
Myoadenylate Deaminase Deficiency N-acetylglutamate Synthase Deficiency Newborn Screening
Organic Aciduria Ornithine Transcarbamylase Deficiency Ornithine Translocase Deficiency
Pentose Phosphate Pathway Phenylketonuria Primary Carnitine Deficiency
Prolidase Deficiency Propionic Acidemia Pyruvate Carboxylase Deficiency
Refsums Disease Rotor Syndrome Sarcosinemia
Short-chain Acyl-coenzyme A Dehydrogenase Deficiency Sly Syndrome Smith-lemli-opitz Syndrome
Succinic Semialdehyde Dehydrogenase Deficiency Tangier Disease Tetrahydrobiopterin Deficiency
Trimethylaminuria Tyrosinemia Urea Cycle Disorder
Very Long-chain Acyl-coenzyme A Dehydrogenase Deficiency Wolman Disease X-linked Ichthyosis
Zellweger Syndrome