Phenylketonuria
- Defect in phenylalanine hydroxylase
- Characteristics - progressive mental retardation, subtle lightening of
skin and hair color.
- Maternal PKU effects on fetus: mental retardation, mild hypertonia, growth
deficiency, microcephaly, round facies, underdeveloped long philtrum,
congenital heart disease
- musty, mousy odor