Electronic version does not contain associated previously published materialPrefatory material introducing a collection of articles spanning fifty years of research into inborn errors of metabolism. Table of Contents:
1. Introduction --
2. Background information about inborn errors of metabolism --
3. Lessons from phenylketonuria [PKU] --
4. My role in developing new medical foods --
5. My role in solving an epidemic of benzyl alcohol poisoning in premature infants --
6. My role in galactosaemia research --
7. My start in the metabolic world - screening tests in urine --
8. My experiences in disaster relief --
9. My first appearance in the medical literature --
10. A selection of rare and unusual diseases --
11. Tyrosinaemia type II; tyrosine aminotransferase deficiency --
12. Iminodipeptiduria due to prolidase deficiency --
13. Citrullinaemia --
14. Rippling muscle disease --
15. A fatal X-linked disorder of diarrhoea, diabetes mellitus and immune
dysregulation --
16. Infantile Refsum disease --
17. Hereditary hypocalcuric hypercalcaemia --
18. Carbohydrate deficient glycoprotein disease type IAPKU --
19. Thiamine-responsive diabetes and deafness --
20. Folinic acid-responsive seizures: a false alarm --
21. S-adenosylmethionine hydrolase deficiency --
22. Deficiency of complex III of the respiratory chain --
23. Current research: quantitation of infant sucking behaviour --
24. Discussion and summar