Five infants from two families with the clinical features of hyperglycinaemia and hyperglycinuria are described. In four of these cases spongy degeneration of the central nervous system is associated with lipid-filled glial cells and retarded myelination. The origin of these changes is discussed and the relationship of the lesions to the metabolic defect is reviewed. The importance of such case...

Canavan Disease (CD) is a leukodystrophy caused by homozygous null mutations in the gene encoding aspartoacylase (ASPA). ASPA-deficiency is characterized by severe psychomotor retardation, and excessive levels of the ASPA substrate N-acetylaspartate (NAA). ASPA is an oligodendrocyte marker and it is believed that CD has a central etiology. However, ASPA is also expressed by Schwann cells and AS...

Aspartoacylase/aminoacylase II (ASPA/ACY II) is mainly synthesized in oligodendrocytes to contribute in myelin synthesis. Although axonal damage is seen in the brain with human immunodeficiency virus encephalitis (HIVE), ASPA contribution in the pathology is not known. Immunostaining study showed that ASPA protein is reduced in the white matter of patients with HIVE compared to the control. Wes...

Kirsten M van Steenbergen-Weijenburg ([email protected]) Lars de Vroege ([email protected]) Robert R Ploeger ([email protected]) Jan W Brals ([email protected]) Martijn G Vloedbeld ([email protected]) Thiemo F Veneman ([email protected]) Leona Hakkaart-van Roijen ([email protected]) Frans FH Rutten ([email protected]) Aartjan TF Beekman ([email protected]) Christina M van der Feltz...

Canavan disease (CD), an autosomal recessive neurodegenerative disorder, is caused by mutations in the aspartoacylase (ASPA) gene. In the present study, the ASPA gene was analyzed in 24 non-Jewish patients with CD from 23 unrelated families. Within this cohort, we found three large novel deletions of approximate 92, 56, and 12.13 kb in length, using both self-ligation of restriction endonucleas...

Case presentation: In the present work, we analyze case of a child, daughter consanguineous parents, without acquisition developmental milestones and already at 4 months cephalic control. With hypotonia in first life, could sit with support, lost this milestone age three. There is no social interaction, severe delay language significant dysphagia need for Gastrostomy an increase head circumfere...