Widespread screening of neonates for phenylketonuria brought to light a class of patients with a disorder of phenylalanine metabolism milder than that in PKU. Improvement in the skin lesions after commencement of a low phenylalanine diet supported the possibility of a causal relationship. (1990) observed scleroderma in 2 infants with PKU. Normal mentality is very rare among patients with phenylketonuria who have not received dietary therapy.Įvidence of heterogeneity in phenylketonuria was presented by Auerbach et al.
Only 3 adults with the biochemical findings of PKU were found. (1970) screened the serum of 280,919 'normal' teenagers and adults whose blood had been submitted for syphilis testing. They concluded that PKU is not a cause of cataracts. Pitt and O'Day (1991) found only 3 persons with cataracts among 46 adults, aged 28 to 71 years, with untreated PKU. Brain calcification has been reported in dihydropteridine reductase (DHPR) deficiency ( 261630). (1988) suggested that cataracts and brain calcification may be frequently overlooked manifestations of classic untreated PKU. Features other than mental retardation in untreated patients include a 'mousy' odor light pigmentation peculiarities of gait, stance, and sitting posture eczema and epilepsy ( Paine, 1957). Obsessive-compulsive disorder ĭepression Īnxiety disorders ĭefects in executive function Įarly diagnosis of phenylketonuria, a cause of mental retardation, is important because it is treatable by dietary means.
Self-mutilation (if left untreated) Īttention deficit disorder (in those who stop treatment) Hyperactivity (if left untreated) Īutistic features (if left untreated) Īggression (if left untreated)
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