Diseases

Folling Disease

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Phenylketonuria (pku) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (pah). ... Pku is an inherited, autosomal recessive disorder. It is the most common genetic disease involving "amino acid metabolism."

SYMPTOMS

If left untreated, complications of pku include severe intellectual disability, brain function abnormalities, microcephaly, mood disorders, irregular motor functioning, and behavioral problems such as attention deficit hyperactivity disorder, as well as physical symptoms such as a "musty" odor, eczema.

CAUSES

It was recently suggested that pku may resemble amyloid diseases, such as alzheimer's disease and parkinson's disease, due to the formation of toxic amyloid-like assemblies of phenylalanine. Other non-pah mutations can also cause pku.