Cerebral glucose metabolism in adults with early treated classic phenylketonuria

Melissa P. Wasserstein, S. E. Snyderman, C. Sansaricq, M. S. Buchsbaum

Research output: Contribution to journalArticle

27 Citations (Scopus)

Abstract

Classic phenylketonuria (PKU) is characterized by severe mental retardation in untreated individuals and mild neurocognitive abnormalities in some early treated adults. The exact biochemical mechanisms underlying this neurotoxicity remain undetermined. Several theories implicate abnormal cerebral energy utilization and alterations in biochemical pathways that involve glucose metabolism. This pilot study was undertaken to investigate whether 18F-deoxyglucose positron emission tomography (PET) is an effective tool to study cerebral glucose metabolism in early treated PKU. After PET coregistration with SPGR MRI, relative glucose metabolic rates (rGMR) at the center of standard atlas positions was determined. Repeated measures MANOVA was used to assess regional metabolic differences, which were then correlated with age-specific and day-of-scan plasma phenylalanine and age. Patients with PKU in comparison to controls had decreased rGMR in cortical regions including the prefrontal, somatosensory, and visual cortices, and increased activity in subcortical regions including the striatum and limbic system. Day-of-scan phenylalanine correlated with abnormal activity in subcortical structures, and older age was associated with decreased activity in the prefrontal and visual cortices. The clinical significance of these abnormalities of glucose metabolism in specific areas of the brain remains unknown.

Original languageEnglish (US)
Pages (from-to)272-277
Number of pages6
JournalMolecular Genetics and Metabolism
Volume87
Issue number3 SPEC. ISS.
DOIs
StatePublished - Mar 2006
Externally publishedYes

Fingerprint

Phenylketonurias
Metabolism
Glucose
Positron emission tomography
Visual Cortex
Prefrontal Cortex
Phenylalanine
Positron-Emission Tomography
Limbic System
Somatosensory Cortex
Atlases
Deoxyglucose
Intellectual Disability
Magnetic resonance imaging
Brain
Energy utilization
Plasmas

Keywords

  • Brain
  • Glucose metabolism
  • PET scan
  • PKU

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

Cite this

Cerebral glucose metabolism in adults with early treated classic phenylketonuria. / Wasserstein, Melissa P.; Snyderman, S. E.; Sansaricq, C.; Buchsbaum, M. S.

In: Molecular Genetics and Metabolism, Vol. 87, No. 3 SPEC. ISS., 03.2006, p. 272-277.

Research output: Contribution to journalArticle

Wasserstein, Melissa P. ; Snyderman, S. E. ; Sansaricq, C. ; Buchsbaum, M. S. / Cerebral glucose metabolism in adults with early treated classic phenylketonuria. In: Molecular Genetics and Metabolism. 2006 ; Vol. 87, No. 3 SPEC. ISS. pp. 272-277.
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