MASSACHUSETTS METABOLIC DISORDERS SCREENING PROGRAM. I. TECHNICS AND RESULTS OF URINE SCREENING

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Abstract
Screening of filter paper urine specimens for metabolic and transport disorders has been conducted in Massachusetts for the past few years. Disorders not identifiable by blood screening are detectable by this program. Specimens are obtained routinely by the parents on 3- to 4-week-old infants and mailed to a central laboratory. Testing is performed on discs punched directly from each specimen utilizing several methods of paper chromatography. Cystinuria, histidinemia, Hartnup disease, and iminoglycinuria (Group I) is each approximately as frequent as is phenylketonuria (PKU) in Massachusetts (1:14,219). Other disorders identified, including the hyperglycinemias, argininosuccinic aciduria, hyperlysinemia, hyperornithinemia, and the Fanconi syndrome (Group II) each has a frequency that seems to be no greater than 1:200,000 of the population. Transient abnormalities, such as tyrosinuria-tyrosyluria, generalized hyperaminoaciduria, iminoglycinuria, cystine-lysinuria, and others have been noted. Also diaper creme or fecal contamination of specimens as well as the ingestion of formulas supplemented with DL-methionine, of ampicillin, or of n-acetylcysteine may result in unusual amino acid patterns. A program such as this requires multiple testing procedures, access to proper evaluative and investigative facilities, and cooperation among the various participating groups. The total expense of this program is about $80,000 per year or approximately $1.00 per infant tested.

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