Phenylketonuria—Treating the Disease and Feeding the Child

Abstract

With the current interest in phenylketonuria surveys and case-finding programs, many questions are being asked about the use of the low-phenylalanine basal mix and the low-phenylalanine diet. It is the purpose of this paper to present the experiences and observations of the research team studying metabolic errors at the Children's Hospital Research Foundation, Cincinnati, Ohio.

Treatment of homocystinuria.

“…Large rises in serum methionine concentrations were then seen, as well as an increase in liver alkaline phosphatase, SGOT, and LHD in patient P.P. These changes were probably related to nutritional deprivation, and have been described as a complication of low protein intake in phenylketonuria (Umbarger, 1960). The present diets provide an adequate intake of essential amino acids, and gains in height and weight have continued in all three patients.…”

Protein Substitutes in PKU; Their Historical Evolution

“…Nutritional deficiencies, malnutrition, and even death were linked to dietary treatment [ 37 ]. In the 1960s, severe skin rashes in babies on Minafen (Allen and Hanbury Ltd., London, UK) were reported [ 38 , 39 , 40 ]. Woolf [ 12 ] described a child with faltering growth and hair loss when acetyl DL tryptophan was accidentally given instead of DL tryptophan; stopping the acetyl derivative immediately reversed the symptoms.…”

Nutrition in relation to phenylketonuria

“…The results have varied in severity from a growth rate below the optimum and alopecia to severe loss of weight and death. The effects are most severe during the 1st year of life; there is failure to gain weight, sometimes vomiting, sometimes fever, the infant becomes miserable, lethargic and listless and, in severe cases, the skin develops a marked fiery rash or exfoliative dermatitis (Umbarger, 1960 ;Brimblecombe et al 1961). This rash starts under the napkin but spreads into the intertriginous folds and resists conventional treatment ; it closely resembles the rash seen in deficiency of essential fatty acids (Hansen, Haggard, Boelsche, Adam & Wiese, 1958).…”