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Early diagnosis of phenylketonuria (PKU) became a goal worth pursuing following demonstration of the efficacy of the dietary treatment conceived by Louis I Woolf. This paper narrates the history of this treatment, describes Woolf's role in the establishment of neonatal PKU screening and surveys his other contributions to our understanding of this condition. If Woolf, Centerwall, Baird and Berry had waited until all the scientific evidence about PKU that is now at our disposal had been brought to light, there would still be no neonatal screening programmes.

Krabbe9s infantile cerebral sclerosis with a prolonged course was present in a boy who became increasingly hypertonic during infancy and had an increased protein level in the spinal fluid. At 4 years he showed significant growth failure, profound mental retardation, spastic quadriplegia, bilateral optic atrophy, and depressed tendon reflexes. Conduction velocity in motor fibers of the median nerve had become progressively impaired. Autopsy at 5 years 10 months showed severe leukodystrophy with demyelination and gliosis. No stored breakdown products or globoid cells were seen in the brain. Galactosyl ceramide beta-galactosidase was virtually absent, and hardly any myelin was demonstrable on chemical and electron microscopic studies. The presence of globoid cells may not be essential for the pathologic diagnosis of Krabbe9s leukodystrophy in the presence of appropriate enzyme deficiency.