Atlas of Inherited Metabolic Diseases 3E

William L Nyhan MD, PhD, Professor of Pediatrics, University of California, San Diego, CA, USA; Bruce A Barshop MD, PhD, Professor of Pediatrics, University of California, San Diego, CA, USA; Aida I Al-Aqeel MD, DCH, FRCP, FACMG, Consultant and Head Pediatrics, Medical Genetics and Consultant Endocrinology, Riyadh Military Hospital, Riyadh, Saudi Arabia

Organic acidemias
Introduction
Propionic acidemia
Methylmalonic acidemia
Methylmalonic aciduria and homocystinuria (cobalamin C and C disease)
Multiple carboxylase deficiency/holocarboxylase synthetase deficiency
Multiple carboxylase deficiency/biotinidase deficiency
Isovaleric acidemia
Glutaric aciduria (type I)
3-Methylcrotonyl CoA carboxylase deficiency/3-methylcrotonyl glycinuria
D-2-hydroxyglutaric aciduria
L-2-hydroxyglutaric aciduria
4-hydroxybutyric aciduria
Mitochondrial acetoacetyl-CoA thiolase (3-oxothiolase) deficiency



Disorders of amino acid metabolism
Alkaptonuria
Phenylketonuria
Hyphenylalaninemia and defective metabolism of tetrahydrobiopterin
Biogenetic amines
Homocystinuria
Maple syrup urine disease (branched-chain oxoaciduria)
Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency
Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency
Nonketotic hyperglycinemia



Hyperammonemia and disorders of the urea cycle
Introduction to hyperammonemia and disorders of the urea cycle
Ornithine transcarbamylase deficiency
Carbamyl phosphate synthetase deficiency
Citrullinemia
Argininosuccinic aciduria
Argininemia
Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome
Lysinuric protein intolerance
Glutamine synthetase deficiency



Disorders of fatty acid oxidation
Introduction to disorders of fatty acid oxidation
Carnitine transporter deficiency
Carnitine: acylcarnitine translocase deficiency
Carnitine palmitoyl transferase I deficiency
Carnitine palmitoyl transferase II deficiency, lethal neonatal
Carnitine palmitoyl transferase II deficiency, late onset
Medium chain acyl CoA dehydrogenase deficiency
Very long-chain acyl CoA dehydrogenase deficiency
Long chain L-3-hydroxyacyl CoA dehydrogenase - (trifunctional protein deficiency)
Short-chain acyl CoA dehydrogenase deficiency
3-HydroxyacylCoA dehydrogenase (short-chain 3-hydroxyacylCoA dehydrogenase) deficiency
Short/branched chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency
Multiple acyl CoA dehydrogenase deficiency/Glutaric aciduria type II/Ethylmalonic-adipic aciduria
3-Hydroxy-3-methylglutaryl CoA lyase deficiency



The lactic acidemias and mitochondrial disease
Introduction to the lactic acidemias
Pyruvate carboxylase deficiency
Fructose-1,6-diphosphatase deficiency
Deficiency of the pyruvate dehydrogenase complex
Lactic acidemia and defective activity of pyruvate, 2-oxoglutarate and branched chain oxoacid dehydrogenases
Mitochondrial encephalomyelopathy, lactic acidosis and stroke-like episodes
Myoclonic epilepsy and ragged red fiber disease
Neurodegeneration, ataxia and retinitis pigmentosa
Kearns-Sayre syndrome
Pearson syndrome
Mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency



Disorders of carbohydrate metabolism
Galactosemia
Glycogen storage diseases: introduction
Glycogenosis type 1 - Von Gierke disease
Glycogenosis type II/Pomple/lysosomal -glucosidase deficiency
Glycogenosis type III/Amylo-1,6-glucosidase (debrancher) deficiency



Peroxisomal disorders
Adrenoleukodystrophy
Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis



Disorders of purine metabolism
Lesch-Nyhan disease and variants
Adenine phosphoribosyl-transferase deficiency
Phosphoribosylpyrophosphate synthetase and its abnormalities
Adenosine deaminase deficiency
Adenylsuccinate lyase deficiency
Orotic aciduria



Disorders of transport and mineral metabolism
Cystinuria
Cystinosis
Hartnup disease
Histiniduria
Menkes disease



Mucopolysaccharidoses
Introduction to mucopolysaccharidoses
Hurler disease/mucopolysaccharidosis type IH-L-iduronidase deficiency
Scheie and Hurler-Scheie diseases/mucopolysaccharidosis IS and HIS/a-iduronidase deficiency
Hunter disease/mucopolysaccharidosis type II/iduronate sulfatase deficiency
Sanfilippo disease/mucopolysaccharidosis type III
Morquio syndrome/mucopolysaccharidosis type IV/keratan sulfaturia
Maroteaux-Lamy disease/mucopolysaccharidosis VI/N-acetylgalactosamine-4-sulfatase deficiency
Sly disease/ß-glucuronidase deficiency/mucopolysaccharidosis VII



Mucolipidoses
I-cell disease/mucolipidosis II
Mucolipidosis III/pseudo-Hurler polydystrophy /N-acetyl-glucosaminyl-1-phosphotransferase deficiency



Disorders of cholesterol and neutral lipid metabolism
Familial hypercholesterolemia
Mevalonic aciduria
Lipoprotein lipase deficiency/type I hyperlipoproteinemia



Lipid storage disorders
Fabry disease
GM1 gangliosidosis/ß-galactosidase deficiency
Tay-Sachs disease/hexosaminidase A deficiency
Sandhoff disease/GM2 gangliosidosis/deficiency of hexosaminidase A and B/hex-B subunit deficiency
GM2 activator deficiency/GM2 gangliosidosis - deficiency of the activator protein
Gaucher disease
Niemann-Pick disease
Niemann-Pick type C disease/cholesterol-processing abnormality
Krabbe disease/galactosylceramide lipidosis/globoid cell leukodystrophy
Wolman disease/cholesteryl ester storage disease
Fucosidosis
a-Mannosidosis
Galactosialidosis
Metachromatic leukodystrophy
Multiple sulfatase deficiency



Miscellaneous
Congenital disorder of glycosylation, type la
Other forms of congenital disorders of glycosylation
a1-Antitrypsin deficiency
Canavan disease/aspartoacylase deficiency
Ethylmalonic encephalopathy
Disorders of creatine synthesis or transport