“Phenylketonuria”, Victor McKusick, “Mendelian Inheritance in Man”, 1966, PART THREE (III).

“Phenylketonuria”, Victor McKusick, Mendelian Inheritance in Man’, 1966. was the topic of an earlier blog post.

Here I present: “Phenylketonuria”, Victor McKusick, Mendelian Inheritance in Man’, 1966. PART THREE (III). Phenylketonuria is an autosomal recessive inborn error of metabolism resulting from a deficiency of enzyme phenylalanine hydroxylase (PAH), the enzyme commission number is EC# 1.14.16.1 shown BELOW.

William Nyhan & Georg Hoffmann, “Atlas of Inherited Metabolic Diseases”, 2014 lists  “Phenylketonuria” in Part #2 of the  “table of contents” of the book is shown BELOW. 

Part 1. ORGANIC ACIDEMIAS.

Part 2. DISORDERS OF AMINO ACID METABOLISM.

Part 3. HYPERAMMONEMIA AND DISORDERS OF THE UREA CYCLE.

Part 4. DISORDERS OF FATTY ACID OXIDATION.

Part 5. THE LACTIC ACIDEMIAS AND MITOCHONDRIAL DISEASE.

Part 6. DISORDERS OF CARBOHYDRATE METABOLISM.

Part 7. PEROXISOMAL DISORDERS.

Part 8. DISORDERS OF PURINE AND PYRIMIDINE METABOLISM.

Part 9. MUCOPOLYSACCHARIDOSES.

Part 10.  MUCOLIPIDOSIS.

Part 12.  LIPID STORAGE DISORDERS.

Part 13.  MISCELLANEOUS.

Here I present: “Phenylketonuria”, Victor McKusick, Mendelian Inheritance in Man’, 1966. PART THREE (III). Part 2.

COMMENTS.

Disorders of amino acid metabolism are common. Besides, Phenylketonuria (PKU) the list BELOW includes ten (10) other disorders of amino acid metabolism … Alkaptonuria, Phenylketonuria … etcetera.  I plan to discuss theses basic disorders in future blog posts.

DISORDERS OF AMINO ACID METABOLISM.

14. Alkaptonuria.
15. Phenylketonuria (PKU).
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.