Attention Deficit Disorder - in Those Who Stop Treatment & Defective Myelin Formation if Left Untreated & Maternal Teratogenic Hyperphenylalaninemia: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Attention Deficit Disorder - in Those Who Stop Treatment, Defective Myelin Formation if Left Untreated, Maternal Teratogenic Hyperphenylalaninemia,

Negated

None

Unsure

None

Possible Causes

Classical Phenylketonuria

BACKGROUND: Deficiency of phenylalanine hydroxylase (PAH) enzyme and elevation of phenylalanine in body fluids cause phenylketonuria (PKU). The gold standard for confirming PKU and PAH deficiency is detecting causal mutations by direct sequencing of the coding exons and splicing involved sequences of the PAH gene.[…] [ncbi.nlm.nih.gov]

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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]

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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]

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