Classical Phenylketonuria
Abstract Indirect measurements have previously suggested that patients with classical phenylketonuria (PKU) do not convert significant amounts of phenylalanine to tyrosine. Low-dose continuous infusion techniques employing [2H5]phenylalanine and [2H2]tyrosine were used to quantitate in vivo phenylalanine[…][ncbi.nlm.nih.gov]
Phenylketonuria
Consideration should also be given to other teratogenic causes, such as maternal diabetes mellitus, alcohol abuse, or use of isotretinoin.[pediatrics.aappublications.org]
[…] suggestive of maternal PKU, such as congenital heart disease, microcephaly, and suggestive facial dysmorphic features without a known cause, should undergo blood testing for hyperphenylalaninemia[pediatrics.aappublications.org]
Missing:
Attention Deficit Disorder - in Those Who Stop Treatment
Defective Myelin Formation if Left Untreated
Phenylalanine Increased
Consideration should also be given to other teratogenic causes, such as maternal diabetes mellitus, alcohol abuse, or use of isotretinoin.[pediatrics.aappublications.org]
[…] suggestive of maternal PKU, such as congenital heart disease, microcephaly, and suggestive facial dysmorphic features without a known cause, should undergo blood testing for hyperphenylalaninemia[pediatrics.aappublications.org]
Missing:
Attention Deficit Disorder - in Those Who Stop Treatment
Defective Myelin Formation if Left Untreated