This 2nd edition has been fully updated and gives an overview about the broad group of inborn errors of metabolism, thereby helping colleagues working in hospitals as well as in private practices. Beside newborn screening, the most important biochemical and clinical key symptoms and differential diagnoses are presented. In addition, the most frequent inborn errors of metabolism are illustrated in short and well arranged form. Special attention is given to tables, flow charts for differential diagnosis, special metabolic investigations as well as treatment and emergency management. In addition, original figures from illustrative clinical or radiological findings as well as hints to updated internet links are integrated.

1.Newborn screening112.Diagnostic procedures152.1.Biochemical investigations152.2.Biopsies, enzymology, histopathology172.3.Mutation analyses172.4.Function tests172.5.Neuroradiological investigations172.6.Post-mortem investigations183.Biochemical key symptoms193.1.Hyperammonaemia193.2.Hypoglycaemia213.3.Metabolic acidosis213.4.Hyperlactataemia224.Clinical key symptoms254.1.The critically ill neonate metabolic emergencies in the neonate254.2.Acute and chronic encephalopathies274.3.Psychomotor impairment274.4.Cardiomyopathy294.5.Dysmorphias304.6.Hepatopathy324.7.Non-immune fetal hydrops324.8.Psychiatric symptoms354.9.Ophthalmological problems374.10.Haematological problems385.Selection of metabolic diseases (symptoms, diagnosis, treatment)395.1.Phenylketonuria (PKU)395.2.Maple syrup urine disease (MSUD)415.3.Tyrosinaemia type I425.4.Disorders of methionine and homocysteine metabolism445.4.1.Classical homocystinuria455.4.2.Methylene tetrahydrofolate reductase (MTHFR) deficiency455.4.3.Sulfite oxidase deficiency and molybdenum cofactor deficiency465.5.Non-ketotic hyperglycinaemia475.6.Urea cycle disorders475.7.Organic acidurias515.7.1.Propionic aciduria515.7.2.Methylmalonic aciduria525.7.3.Isovaleric aciduria535.7.4.Glutaric aciduria type I545.8.Disorders of biotin metabolism555.9.Mitochondrial disorders565.10.Disorders of the carnitine cycle, fatty acid oxidation and ketone body metabolism605.10.1.Carnitine transporter defect (organic cation carnitine transporter 2 defect, OCTN2, primary carnitine deficiency)615.10.2.Carnitine cycle disorders615.10.2.1.Carnitine palmitoyltransferase 1 (CPT 1) deficiency615.10.2.2.Carnitine/acylcarnitine translocase (CACT) deficiency625.10.2.3.Carnitine palmitoyltransferase 2 (CPT 2) deficiency625.10.3.Disorders of b-oxidation of fatty acids625.10.3.1.Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency625.10.3.2.Mitochondrial trifunctional protein (mTFP) deficiency, long-chain 3-hydroxyacyl-CoA dehydrogenase(LCHAD) deficiency, long-chain 3-ketoacyl-CoA thiolase (LKAT) deficiency635.10.3.3.Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency645.10.3.4.Short-chain acyl-CoA dehydrogenase (SCAD) deficiency685.10.4.Multiple acyl-CoA dehydrogenase (MAD) deficiency (or electron transfer defect, ETF/ETF-DH, or glutaric aciduria type II)685.10.5.Defects of ketone body metabolism685.10.5.1.3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase deficiency685.10.5.2.3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency695.11.Disturbances of carbohydrate metabolism695.11.1.Classical galactosaemia695.11.2.Hereditary fructose intolerance (HFI)715.11.3.Glycogen storage diseases (GSD)725.11.3.1.Glycogenosis I (GSD I, von Gierke's disease)725.11.3.2.Glycogenosis III (GSD III, Cori/Forbes disease)745.11.3.3.Glycogenosis V (GSD V, McArdle's disease)755.11.3.4.Glycogenosis IX (GSD IX)765.12.Congenital hyperinsulinism765.13.Lysosomal storage diseases (LSD)775.13.1.Gaucher's disease785.13.2.Fabry's disease795.13.3.Mucopolysaccharidoses805.14.Peroxisomal disorders815.14.1.Group I: Disorders of peroxisome biogenesis815.14.2.Group II: Isolated defects of peroxisomal pathways835.15.Congenital disorders of glycosylation (CDG)845.15.1.PMM2-CDG (formerly CDG type Ia)865.15.2.MPI-CDG (formerly CDG type Ib)865.15.3.SLC35C1-CDG (formerly CDG type IIc)865.16.Disorders of purine and pyrimidine metabolism865.16.1.Increased production of uric acid885.16.2.Reduced production of uric acid885.16.3.Increased excretion of uric acid885.16.4.Therapeutic options in disorders of purine and pyrimidine metabolism885.17.Disorders of creatine metabolism885.17.1.Guanidinoacetate methyltransferase (GAMT) deficiency895.17.2.Arginine:glycine-amidinotransferase (AGAT) deficiency895.17.3.Creatine transporter deficiency905.18.Hyperlipidaemias905.18.1.Hypercholesterolaemia905.18.2.Hypertriglyceridaemia925.18.2.1.Hyperchylomicronaemia925.18.2.2.Familial hypertriglyceridaemia935.18.3.Mixed hyperlipidaemias935.18.3.1.Familial combined hyperlipidaemia935.18.3.2.Familial dysbetalipoproteinaemia (remnant hyperlipidaemia, broad beta disease)936.Tables special metabolic investigations, dietetic treatment, emergency medication957.Literature and internet links1017.1.General literature1017.2.Internet links1018.Abbreviations103Index105