Dietary and Biochemical Control of Phenylketonuria

Abstract

SEPT. 23, 1961 HYPOPHYSECTOMY IN BREAST CANCER BRDICJO7AL93 patients. Preliminary results indicate that the initial high levels (Whitaker, 1960) fall coincident with satisfactory clinical response. Serum phosphohexoseisomerase has also been estimated serially (Boesen, unpublished)

Nutrition in relation to phenylketonuria

“…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). T h e signs and symptoms are dramatically relieved by milk, a source of phenylalanine (Brimblecombe et al 1961).…”

“…This is ~5 -5 0~~ of the reported requirement for normal infants (Snyderman, Pratt, Cheung, Norton, Holt, Hansen & Panos, 1955). However, other investigators have found considerable variation in the amount of phenylalanine required by phenylketonurics during the 1st year of life, both from infant to infant and at different times in the same infant (Woolf et al 1958;Brimblecombe, Blainey, Stoneman & Wood, 1961). They found that the amount of dietary phenylalanine needed to keep the concentration of phenylalanine in the blood normal rises to a peak during the 1st year of life.…”

“…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).…”

Malnutrition with Early Treatment of Phenylketonuria

“…We cannot prove that the malnourished state produced in the young infants we fed phenylalanine-restricted diets has been harmful. A false diagnosis of phenylketonuria in a number of infants led to their being fed low phenylalanine diets for periods of 12-24 months [4,11,16,52,54]. Mental development in some of these children has been retarded.…”

“…have been described including peculiar roentgenoMass screening of newborns for phenylketonuria graphic bone changes [8,25,26,44], vacuolization of red cell precursors in the bone marrow [35,57], megaloblastic anemia [53], hypoglycemia [21,23], hypoproteinemia [32], 'phenylalanine deficiency syndrome' [11,52,63], poor weight gain [43,63], cutaneous lesions [52,63], and impaired antibody responses [62]. A number of authors admit that weight gain and linear growth of their treated patients has been retarded [1,6,13,35,41,57], while others state that these indices have been maintained within the normal range [7,8,32,61].…”