A new disorder of purine metabolism with behavioral manifestations

William L. Nyhan; John A. James; Annabel J. Teberg; Lawrence Sweetman; Leslie G. Nelson

doi:10.1016/S0022-3476(69)80004-1

A new disorder of purine metabolism with behavioral manifestations

William L. Nyhan, John A. James, Annabel J. Teberg, Lawrence Sweetman, Leslie G. Nelson

Research output: Contribution to journal › Article › peer-review

59 Scopus citations

Abstract

Hyperuricemia has been observed in a 3-year-old boy with mental retardation, dysplastic teeth, failure to cry with tears, absence of speech, and unusual, autistic behavior. Increased synthesis of purines de novo was documented by a rate of conversion of glycine to uric acid that was seven times that of control. The activity of the enzyme hypoxanthine guanine phosphoribosyl transferase was normal, while that of adenine phosphoribosyl transferase was increased. These observations are interpreted to reflect a distinct disease productive of hyperuricemia very early in life.

Original language	English (US)
Pages (from-to)	20-27
Number of pages	8
Journal	The Journal of pediatrics
Volume	74
Issue number	1
DOIs	https://doi.org/10.1016/S0022-3476(69)80004-1
State	Published - Jan 1969
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/S0022-3476(69)80004-1

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title = "A new disorder of purine metabolism with behavioral manifestations",

abstract = "Hyperuricemia has been observed in a 3-year-old boy with mental retardation, dysplastic teeth, failure to cry with tears, absence of speech, and unusual, autistic behavior. Increased synthesis of purines de novo was documented by a rate of conversion of glycine to uric acid that was seven times that of control. The activity of the enzyme hypoxanthine guanine phosphoribosyl transferase was normal, while that of adenine phosphoribosyl transferase was increased. These observations are interpreted to reflect a distinct disease productive of hyperuricemia very early in life.",

author = "Nyhan, {William L.} and James, {John A.} and Teberg, {Annabel J.} and Lawrence Sweetman and Nelson, {Leslie G.}",

note = "Funding Information: States This investigation Public Health was Service supported Research by United Grants No. HD 02609 \[rom the National Institute of Child Health and Human Development and No. FR 00261 \[rom the General Clinical Research Centers Branch, Division of Research Facilities and Resources, National Institutes of Health, and by Public Health Service Training Grant No. T1 HD 76 from the National Institute o\[ Child Health and Human Development, National Institutes of Health.",

year = "1969",

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doi = "10.1016/S0022-3476(69)80004-1",

language = "English (US)",

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T1 - A new disorder of purine metabolism with behavioral manifestations

AU - Nyhan, William L.

AU - James, John A.

AU - Teberg, Annabel J.

AU - Sweetman, Lawrence

AU - Nelson, Leslie G.

N1 - Funding Information: States This investigation Public Health was Service supported Research by United Grants No. HD 02609 \[rom the National Institute of Child Health and Human Development and No. FR 00261 \[rom the General Clinical Research Centers Branch, Division of Research Facilities and Resources, National Institutes of Health, and by Public Health Service Training Grant No. T1 HD 76 from the National Institute o\[ Child Health and Human Development, National Institutes of Health.

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N2 - Hyperuricemia has been observed in a 3-year-old boy with mental retardation, dysplastic teeth, failure to cry with tears, absence of speech, and unusual, autistic behavior. Increased synthesis of purines de novo was documented by a rate of conversion of glycine to uric acid that was seven times that of control. The activity of the enzyme hypoxanthine guanine phosphoribosyl transferase was normal, while that of adenine phosphoribosyl transferase was increased. These observations are interpreted to reflect a distinct disease productive of hyperuricemia very early in life.

AB - Hyperuricemia has been observed in a 3-year-old boy with mental retardation, dysplastic teeth, failure to cry with tears, absence of speech, and unusual, autistic behavior. Increased synthesis of purines de novo was documented by a rate of conversion of glycine to uric acid that was seven times that of control. The activity of the enzyme hypoxanthine guanine phosphoribosyl transferase was normal, while that of adenine phosphoribosyl transferase was increased. These observations are interpreted to reflect a distinct disease productive of hyperuricemia very early in life.

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A new disorder of purine metabolism with behavioral manifestations

Abstract

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