Hyperphenylalaninemia
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Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated concentrations of the amino acid phenylalanine in the blood. Phenylketonuria (PKU) can result in severe hyperphenylalaninemia.[2] Phenylalanine concentrations are routinely screened in newborns by the neonatal heel prick (Guthrie test), which takes a few drops of blood from the heel of the infant. Standard phenylalanine concentrations in unaffected persons are about 2-6mg/dl (120–360 µmol/L) phenylalanine concentrations in those with untreated hyperphenylalaninemia can be up to 20 mg/dL (1200 µmol/L). Measurable IQ deficits are often detected as phenylalanine levels approach 10 mg/dL (600 mol/L). Phenylketonuria (PKU)-like symptoms, including more pronounced developmental defects, skin irritation, and vomiting, may appear when phenylalanine levels are near 20 mg/dL (1200 mol/L).[1]Hyperphenylalaninemia is a recessive hereditary metabolic disorder that is caused by the body's failure to convert phenylalanine to tyrosine as a result of the entire or partial absence of the enzyme phenylalanine hydroxylase.[3]
Hyperphenylalaninemia | |
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Hyperphenylalaninemia can be inherited in an autosomal recessive manner. | |
Specialty | Endocrinology |
Differential diagnosis | Phenylketonuria (PKU), BH4 Deficiency (Tetrahydrobiopterin Deficiency), Tyrosinemia.[1] |
Frequency | 15–75 per 1,000,000 births.[1] |