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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 ...
Phenylalanine is a precursor for tyrosine, the monoamine neurotransmitters dopamine, norepinephrine (noradrenaline), and epinephrine (adrenaline), and the biological pigment melanin. It is encoded by the messenger RNA codons UUU and UUC. Phenylalanine is found naturally in the milk of mammals.
Tetrahydrobiopterin deficiency (THBD, BH 4 D) is a rare metabolic disorder that increases the blood levels of phenylalanine.Phenylalanine is an amino acid obtained normally through the diet, but can be harmful if excess levels build up, causing intellectual disability and other serious health problems.
People who experience any of the following warning signs should see a health care provider immediately or call 911 to rule out a more serious medical condition. - Worst headache of your life
The absence of BH 4 affects the metabolism of Phenylalanine. This is the reason that PKU and PTPS deficiency share some similar symptoms. However, since BH 4 is needed for much more than just the metabolism of Phenylalanine, there are other symptoms as well. [7]
Phenylalanine is a large, neutral amino acid (LNAA). LNAAs compete for transport across the blood–brain barrier (BBB) via the large neutral amino acid transporter (LNAAT). If phenylalanine is in excess in the blood, it will saturate the transporter. Excessive levels of phenylalanine tend to decrease the levels of other LNAAs in the brain.
This defect is normally detected within the first few months of life and comes with symptoms such as seizures, weak muscles, hair loss, breathing problems, and vision loss.
Few periods of life are more closely monitored and supervised than during one's pregnancy. Throughout this time, trained medical professionals conduct a series of prenatal visits with the mother ...