Phenylketonuria

Phenylketonuria

Phenylketonuria is most often called PKU. Proteins in your food are made of small building blocks. These are amino acids. Your body uses enzymes to change the amino acids into something the body can use. With PKU, one of the enzymes is missing. The missing enzyme is supposed to break down the amino acid phenylalanine. Without the enzyme, phenylalanine builds up in your blood. Then, it may cause problems like brain damage or severe mental retardation.

Long-lasting brain damage,Behavior problems and hyperactivity,Low IQ,Anxiety or low mood,Delay in development,Seizures, jerking movements, or tremors,Skin rash,Stunted growth,Small head size,Low bone density,Vitamin deficiency,Hands stay in an odd position

Endocrine and Metabolic,Medical Genetics,Neonatal,Pediatric

Classical Phenylketonuria,Folling's Disease,Hyperphenylalaninemia, Classic Type,Neonatal Phenylketonuria,PAH Deficiency,Phenylalanine Hydroxylase Deficiency,Phenylalaninemia,PKU

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