Acta Neuropathologica

, Volume 58, Issue 1, pp 55–63 | Cite as

Morphologic and histoanatomic observations of the brain in untreated human phenylketonuria

  • M. L. Bauman
  • Th. L. Kemper
Original Works


The cerebra of three profoundly retarded adult males with untreated phenylketonuria (PKU) were systematically studied in terms of developmental morphology and histoanatomy against normal agematched material, technically comparable in preparation. These studies were made possible by the availability of two extensive reference collections of normative neuroanatomic material, the Yakovlev and the Conel collections. The developmental parameters of myelination, width of the cortical plate, cell packing density, neuronal cell size, development of Nissl granulation, dendritic arborization and synaptic spine populations were studied. Our results indicate that there is a marked curtailment of histoanatomical maturation of the brain in PKU by all developmental parameters studied.

Key words

Phenylketonuria Brain Neuroanatomy Aminoaciduria Cerebral cortex 


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Copyright information

© Springer-Verlag 1982

Authors and Affiliations

  • M. L. Bauman
    • 2
    • 1
  • Th. L. Kemper
    • 3
    • 1
  1. 1.Ennice Kennedy Shriver Center for Mental RetardationWalthamUSA
  2. 2.Chldren's Neurology ServiceMassachusetts General HospitalBostonUSA
  3. 3.Neuropathology ServiceBoston City HospitalBostonUSA

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