Dihydrobiopterin Reductase Deficiency
Dihydrobiopterin Reductase Deficiency
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.
Name
Phenylketonuria
About this topic
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.
What problems could happen?
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
Body systems
Endocrine and Metabolic,Medical Genetics,Neonatal,Pediatric
What are other common names?
Classical Phenylketonuria,Folling's Disease,Hyperphenylalaninemia, Classic Type,Neonatal Phenylketonuria,PAH Deficiency,Phenylalanine Hydroxylase Deficiency,Phenylalaninemia,PKU
Consumer Information Use and Disclaimer
This information is not specific medical advice and does not replace information you receive from your health care provider. This is only a brief summary of general information. It does NOT include all information about conditions, illnesses, injuries, tests, procedures, treatments, therapies, discharge instructions or life-style choices that may apply to you. You must talk with your health care provider for complete information about your health and treatment options. This information should not be used to decide whether or not to accept your health care provider’s advice, instructions or recommendations. Only your health care provider has the knowledge and training to provide advice that is right for you.
Copyright
Copyright © 2020 Wolters Kluwer Clinical Drug Information, Inc. and its affiliates and/or licensors. All rights reserved.
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