Phenylketonuria

Phenylketonuria (PKU) is an autosomal-recessive deficiency of phenylalanine hydroxylase (PAH) or its cofactor tetrahydrobiopterin, causing accumulation of phenylalanine and neurotoxicity. Untreated: severe intellectual disability, musty/mousy odor, fair skin/eczema, seizures, behavioral problems. Newborn screening detects it early. Treatment: lifelong low-phenylalanine diet (special formula, low-protein foods) and BH4/sapropterin in responsive cases; maternal PKU control prevents fetal damage.

Common Symptoms

Intellectual disability; musty odor; fair skin/eczema; seizures; behavioral/mood problems; microcephaly

Causes and Pathogenesis

PAH/BH4 deficiency blocks phenylalanine-to-tyrosine conversion; elevated phenylalanine is neurotoxic and reduces melanin/neurotransmitter synthesis.

Treatment

Lifelong low-phenylalanine diet; special medical formula; sapropterin/BH4; large neutral amino acids; strict control in pregnancy

Preventive Measures

Newborn screening; genetic counseling; maternal-PKU dietary control before/during pregnancy.

Department to Visit

It is recommended to visit the Pediatrics department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.