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May 17, 2012 · Penrose fed his sole PKU patient—1 out of 500 institutionalized patients he screened with the ferric chloride test—nothing but fruit, sugar, olive oil, and vitamins. Initially, success beckoned when phenylpyruvic acid disappeared from the patient’s urine. Penrose rejoiced, thinking that he saw some improvement in his patient’s mental state.
Dec 1, 1998 · The 1973 monograph in the series Biographical Memoirs of Fellows of the Royal Society (Vol. 19, pp. 521-561) by Harry Harris, entitled Lionel Sharples Penrose (1898-1972), which contains a complete Penrose bibliography, was a helpful resource in the preparation of this manuscript.
The geneticist Lionel Penrose demonstrated that phenylpyruvate excretion increased further when dietary phenylalanine intake increased and he coined the term phenylketonuria 2 to describe the disorder. PAH deficiency as the primary defect in PKU was not actually proven until almost 20 years later 3.
- Cary O. Harding
- 10.1142/s2529732519400145
- 2019
- 2019/12
James Spence Medal 1964. Lionel Sharples Penrose, FRS (11 June 1898 – 12 May 1972) was an English psychiatrist, medical geneticist, paediatrician, mathematician and chess theorist, who carried out pioneering work on the genetics of intellectual disability. [6][7] Penrose was initially the Galton professor of eugenics (1945–1963) at ...
Mar 9, 2017 · The aim of our study was to develop and validate the first set of PKU-specific Health-related Quality of Life (HRQoL) questionnaires that: 1) were developed for patients with PKU and their parents ...
Genetically the abnormality appears to be inherited as a single Mendelian recessive character and, in this way, it resembles two other metabolic abnormalities, alcaptonuria and albinism, though it is not so rare as they are. F6LLING [1934] discovered that, in certain cases of mental deficiency, phenylpyruvic acid was excreted in the urine. His attention was drawn to the phenomenon by the ...
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phenylacetate). Phenylacetic acid is responsible for the musty odor of PKU. Dr. Fölling contacted institutions in and around Oslo that cared for mentally retarded persons. Among 430 children tested, he found 8 with the same abnormality as the Egeland children. The name “phenylketonuria” was coined by Dr. Lionel Penrose, a geneticist from
