Diffusion kurtosis imaging detects subclinical white matter abnormalities in Phenylketonuria.

ABSTRACT:

Objective

Phenylketonuria (PKU) is an autosomal recessive disorder whereby deficiencies in phenylalanine metabolism cause progressive neurological dysfunction. Managing PKU is challenging, with disease monitoring focussed on short-term phenylalanine control rather than measures of neuronal damage. Conventional imaging lacks sensitivity, however diffusion kurtosis imaging (DKI), a new MRI method may reveal subclinical white matter structural changes in PKU.

Methods

This cohort study involved adults with PKU recruited during routine clinical care. MRI, neurocognitive assessment and historical phenylalanine (Phe) levels were collected. A hypothesis-generating case study comparing diet-compliant and non-compliant siblings confirmed that DKI metrics are sensitive to dietary adher

SUBMITTER: Hellewell SC 

PROVIDER: S-EPMC7814191 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature