PMID: 46515Feb 15, 1975

Abnormal organic acidurias in mentally retarded patients

Lancet
R W WattsA M Lawson

Abstract

Urine specimens from 1778 mentally retarded patients and 420 age and sex matched non-retarded controls selected from a general practice have been analysed for non-amino organic acids by a quantitative extraction and gas chromatographic method. The compounds were identified by combined gas chromatography and mass spectrometry. Approximately 5% of the patients had an abnormal organic aciduria. The frequency of abnormalities was slightly higher (about 7%) in a group of 248 severely subnormal children, but not in cases with a family history of mental retardation, retarded sibs, or whose parents were consanguineous. The most frequently observed abnormalities were phenylalanine metabolites in cases of phenylketonuria (about 1%), increased excretion of benzoic acid (about 1%), and increased excretion of 2-oxoglutaric acid with or without raised urinary citric-acid levels (about 1%). The biochemical and clinical significance of these findings is being further investigated.

References

Aug 1, 1984·European Journal of Pediatrics·W Lehnert, H Niederhoff
Jan 1, 1978·Journal of Inherited Metabolic Disease·T AndoJ Stern
Feb 15, 1978·Experientia·R W Watts
Jan 1, 1980·Journal of Inherited Metabolic Disease·R A ChalmersA M Lawson
Dec 10, 1975·Journal of Chromatography·U LangenbeckK P Dieckmann
Jul 20, 2000·BJOG : an International Journal of Obstetrics and Gynaecology·P G BenardisJ J Bowyer
Nov 1, 1987·Pediatric Dermatology·D P WestJ I Harper
Sep 1, 1986·Journal of Mental Deficiency Research·G HoffmannU Langenbeck
Dec 1, 1980·Journal of Mental Deficiency Research·R W WattsP Purkiss

Citations

May 27, 1965·The New England Journal of Medicine·M L EFRON

Related Concepts

Homovanillic Acid
Inborn Errors of Metabolism
Organic acids, Gynecological
Urine
Hydroxybutyric Acids
Hyperphenylalaninaemia
Mentally Disabled Persons
Family Medicine (Field)
Benzoic Acid
Lactates

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