𝔖 Bobbio Scriptorium
✦   LIBER   ✦

MR imaging and spectroscopy in PKU

✍ Scribed by Moats, Rex A. ;Scadeng, Miriam ;Nelson, Marvin D.

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
52 KB
Volume
5
Category
Article
ISSN
1080-4013

No coin nor oath required. For personal study only.

✦ Synopsis

Phenylketonuria (PKU) is an autosomal recessive disorder that results in the accumulation of phenylalanine in the blood and soft tissues. Elevated levels of phenylalanine have neurotoxic effects on the developing brain, resulting in mental retardation. Early diagnosis and treatment limits the neurological damage. Magnetic resonance imaging (MRI) changes are seen in the white matter on T 2 weighted imaging in many subjects. The severity of the changes do not correlate with clinical measures of neurological health. The changes correlate best with recent phenylalanine control. The levels of brain phenylalanine concentration using magnetic resonance spectroscopy (MRS) have been shown not to correlate tightly with the blood phenylalanine concentration. The individual variation in the brain to blood phenylalanine is large. This individual variability may be responsible for different clinical outcomes in PKU subjects who have similar long-term blood concentrations of phenylalanine.

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