PKU

No phenylaline hydroxlase prevents phenylalanie convertion to trysine - affected pathways - noradrenaline - adrenaline - dopamine - melanin - thyroid hormone - portein synthesis symptoms - severe intelectual disability - developmental delay - microcephaly (small head) = seizures - hypopigmentation Autosomal recessive within chromosome 12, accumulation in phenylalanine in tissues, plasma and urine. Musty smell