William Nyhan & Georg Hoffmann, “Atlas of Inherited Metabolic Diseases”, 2014. was the topic of an earlier blog post.
Ian Stewart, In Pursuit of the Unknown: 17 Equations that Changed the World’, 2012, PART FOUR (IV) also was the topic of an earlier blog post.
Here I present: Ian Stewart, In Pursuit of the Unknown: 17 Equations that Changed the World’, 2012, PART FIVE (V).
INTRODUCTION.
The human body is 60% water, 16% protein, 16% fat, 6% minerals, 1% carbohydrate, 1% nucleic acid. The 1% nucleic acid is the essential substance; since, it includes chromosomal DNA. Shown ABOVE is the disc that contains the “DNA chemical formula” for the HUMAN GENOME. The DNA chromosomes are presented in clockwise order: X, 1, 2, 3 … 20, 21, 22, Y in the ABOVE diagram. Furthermore, seven (7) Enzyme Equations are listed ABOVE.
| Part 0. ORGANIC ACIDEMIAS. |
| 1. Organic acidemias. |
| 2. Propionic acidemia. |
| 3. Methylmalonic acidemia. |
| 4. Cobalamin C, D, F, G diseases; methylmalonic aciduria and variable homocystinuria. |
| 5. The methylmalonic malonic aciduria of deficiency of AcylCoA synthetase (ACSF3). |
| 6. Multiple carboxylase deficiency/holocarboxylase synthetase deficiency. |
| 7. Multiple carboxylase deficiency/biotinidase deficiency. |
| 8. Isovaleric acidemia. |
| 9. Glutaric aciduria (type I). |
| 10. 3-MethylcrotonylCoA carboxylase deficiency/3- |
| Methylcrotonylglycinuria. |
| 11. D-2-hydroxyglutaric (DL-2-hydroxyglutaric) aciduria. |
| 12. L-2-hydroxyglutaric aciduria. |
| 13. 4-Hydroxybutyric aciduria. |
| Part 1. DISORDERS OF AMINO ACID METABOLISM. |
| 14. Alkaptonuria. |
| 15. Phenylketonuria. |
| 16. Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin. |
| 17. Biogenic amines. |
| 18. Homocystinuria. |
| 19. Maple syrup urine disease (branched-chain oxoaciduria). |
| 20. Branched chain keto acid dehydrogenase kinase (BCKDK) deficiency. |
| 21. Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency. |
| 22. Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency. |
| 23. Nonketotic hyperglycinemia. |
| 24. Serine deficiencies. |
| Part 2. HYPERAMMONEMIA AND DISORDERS OF THE UREA CYCLE. |
| 25. Hyperammonemia and disorders of the urea cycle. |
| 26.Ornithine transcarbamylase deficiency. |
| 27. Carbamylphosphate synthetase deficiency. |
| 28. Citrullinemia type I. |
| 29. Argininosuccinic aciduria. |
| 30. Argininemia. |
| 31. Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome. |
| 32. Lysinuric protein intolerance. |
| 33. Glutamine synthetase deficiency. |
| Part 3. DISORDERS OF FATTY ACID OXIDATION. |
| 34. Disorders of fatty acid oxidation. |
| 35. Carnitine transporter deficiency. |
| 36.Carnitine-acylcarnitine translocase deficiency. |
| 37. Carnitine palmitoyl transferase I deficiency. |
| 38. Carnitine palmitoyl transferase II deficiency, lethal neonatal. |
| 39.Medium-chain acyl CoA dehydrogenase deficiency. |
| 40.Very long-chain acyl-CoA dehydrogenase deficiency. |
| 41. Long-chain L-3-hydroxyacyl-CoA dehydrogenase – (trifunctional protein) deficiency. |
| 42. Short-chain acyl CoA dehydrogenase (SCAD) deficiency. |
| 43. Short-chain 3-hydroxyacylCoA dehydrogenase (SCHAD) deficiency. |
| 44. Short/branched-chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency. |
| 45. Multiple acyl CoA dehydrogenase deficiency/glutaric aciduria type II ethylmalonic-adipic aciduria. |
| 46. 3-Hydroxy-3-methylglutarylCoA lyase deficiency. |
| Part 4. THE LACTIC ACIDEMIAS AND MITOCHONDRIAL DISEASE. |
| 47. Lactic acidemias. |
| 48. Pyruvate carboxylase deficiency. |
| 49. Fructose-1,6-diphosphatase deficiency. |
| 50.Deficiency of the pyruvate dehydrogenase complex. |
| 51. Mitochondrial encephalomyelopathy, lactic acidosis, and stroke-like episodes (MELAS). |
| 52. Myoclonic epilepsy and ragged red fiber (MERRF) disease. |
| 53. Neurodegeneration, ataxia, and retinitis pigmentosa (NARP). |
| 54. Kearns-Sayre syndrome. |
| 55. Pearson syndrome. |
| 56. The mitochondrial DNA’ depletion syndromes: mitochondrial DNA’ polymerase deficiency. |
| Part 5. DISORDERS OF CARBOHYDRATE METABOLISM. |
| 57. Galactosemia. |
| 58. Glycogen storage diseases: introduction. |
| 59. Glycogenosis type I – von Gierke disease. |
| 60. Glycogenosis type II/Pompe/lysosomal α-glucosidase deficiency. |
| 61. Glycogenosis type III/amylo-1, 6-glucosidase (debrancher) deficiency. |
| Part 6. PEROXISOMAL DISORDERS. |
| 62.Adrenoleukodystrophy |
| 63.Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis |
| Part 7. DISORDERS OF PURINE AND PYRIMIDINE METABOLISM. |
| 64. Disorders of purine and pyrimidine metabolism. |
| 65. Lesch-Nyhan disease and variants. |
| 66.Adenine phosphoribosyltransferase (APRT) deficiency. |
| 67. Phosphoribosylpyrophosphate synthetase and its abnormalities. |
| 68. Adenosine deaminase deficiency. |
| 69.Adenosine kinase deficiency. |
| 70. Purine nucleoside phosphorylase deficiency. |
| 71. Adenylosuccinate lyase deficiency. |
| 72. Xanthinuria, xanthine oxidase deficiency. |
| 73. Orotic aciduria. |
| 74. Molybdenum cofactor deficiency. |
| Part 8, MUCOPOLYSACCHARIDOSES. |
| 75. Mucopolysaccharidoses. |
| 76. Hurler disease/mucopolysaccharidosis type IH (MPSIH)/α-L-iduronidase deficiency. |
| 77. Scheie and Hurler–Scheie diseases/mucopolysaccharidosis IS and IHS/α-iduronidase deficiency. |
| 78. Hunter disease/mucopolysaccharidosis type II/iduronate sulfatase deficiency. |
| 79. Sanfilippo disease/mucopolysaccharidosis type III. |
| 80. Morquio syndrome/mucopolysaccharidosis type IV/keratan sulfaturia. |
| 81. Maroteaux-Lamy disease/mucopolysaccharidosis VI/N-acetylgalactosamine-4-sulfatase deficiency |
| 82. Sly disease /β-glucuronidase deficiency/mucopolysaccharidosis VII. |
| Part 9. MUCOLIPIDOSIS. |
| 83. Mucolipidosis II and III/ (I-cell disease and pseudo-Hurler polydystrophy) N-acetyl-glucosaminyl-l-phosphotransferase deficiency. |
| Part 10. DISORDERS OF CHOLESTEROL AND NEUTRAL LIPID METABOLISM. |
| 84. Familial hypercholesterolemia. |
| 85. Mevalonic aciduria. |
| 86. Lipoprotein lipase deficiency/type I hyperlipoproteinemia. |
| Part 11. LIPID STORAGE DISORDERS. |
| 87. Fabry disease. |
| 88.Tay-Sachs disease/hexosaminidase A deficiency. |
| 89.Sandhoff disease/GM2 gangliosidosis/deficiency of Hex A and Hex B subunit deficiency. |
| 90. Gaucher disease. |
| 91. Niemann-pick disease. |
| 92.Niemann-Pick type C disease/cholesterol-processing abnormality. |
| 93.Krabbe disease/galactosylceramide lipidosis/globoid cell leukodystrophy. |
| 94. Lysosomal acid lipase deficiency: Wolman disease/cholesteryl ester storage disease. |
| 95. Fucosidosis. |
| 96.α-Mannosidosis (β-Mannosidosis). |
| 97. Galactosialidosis. |
| 98. Metachromatic leukodystrophy. |
| 99.Multiple sulfatase deficiency. |
| Part 12. MISCELLANEOUS. |
| 100. Disorders of vitamin B6 metabolism. |
| 101. PMM2-CDG (Congenital disorders of glycosylation, type Ia). |
| 102. Ethylmalonic encephalopathy. |
| 103. Disorders of creatine synthesis or transport. |
| 104. GLUT1 deficiency. |
| 105. Hypophosphatasia. |
| 106. NBAS/RALF deficiency. |
| 107. α1-Antitrypsin deficiency |
Here I presented: Ian Stewart, In Pursuit of the Unknown: 17 Equations that Changed the World’, 2012, PART FIVE (V).
COMMENTS.
The table ABOVE consists one-hundred-seven (107) “inherited metabolic disorders”. Gaucher Disease (#90 in list) is located on chromosome # 1. Gaucher Disease, like all of the ABOVE metabolic disorders is described by the seven (7) Enzyme Equations. Ian Stewart has an excellent list of equations for the Physicist. However, Physiologist use the equations presented in this blog post on a daily basis. Physiological chemistry is the essence of a human body.
