Aspartyl glucosaminuriaE77.1

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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HistoryThis section has been translated automatically.

Jenner and Pollitt, 1967

DefinitionThis section has been translated automatically.

Hereditary lysosomal storage disease ( sphingolipidosis) caused by pathological changes in aspartyl glucosaminidase.

Occurrence/EpidemiologyThis section has been translated automatically.

Common in Finland; only sporadically described in Central Europe or North America.

EtiopathogenesisThis section has been translated automatically.

Autosomal recessive inherited defect of aspartyl glucosaminidase mapped on the gene locus 4q32-q33 Pathogenetically, there is a lack of activity of the lysosomal enzyme aspartyl glucosaminidase (exoglycosidase), with consecutive deposition of glycoproteins in the lysosomes of the cells of the vascular intima and neuronal tissues.

Clinical featuresThis section has been translated automatically.

Dementia already in early childhood. Short stature, rough facial features, cutis laxa, hernias, tendency to recurrent respiratory infections, arthritis. Vacuolated lymphocytes and storage cells in the bone marrow. Rare occurrence of angiokeratomas. S.a. Angiokeratoma corporis diffusum.

LiteratureThis section has been translated automatically.

  1. Arvio M (1993) Follow-up in patients with aspartylglucosaminuria, Part I. The course of intellectual functions. Acta Paediatr 82: 469-471; Part II Adaptive skills Acta Paediatr 82: 590-594
  2. Arvio P, Arvio M (2002) Progressive nature of aspartylglucosaminuria. Acta Paediatr 91: 255-257
  3. Harkke S et al (2003) Aspartyl glucosaminidase (AGA) is efficiently produced and endocytosed by glial cells: implication for the therapy of a lysosomal storage disorder. J Gene Med 5: 472-482
  4. Jenner FA, Pollitt RJ (1967) Large quantities of 2-acetamido-1-(beta-L-aspartamido)-1,2-dideoxyglucose in the urine of mentally retarded siblings. Biochem J 103: 48-49
  5. Mononen I, Heisterkamp N, Kaartinen V et al (1991) Aspartylglucosaminuria in the Finnish population: Identification of two point mutation in the heavy chain of glycoasparaginase. Proc Natl Acad Sci 88: 2941-2945
  6. Pollitt RJ, Jenner FA, Merskey H (1968) Aspartylglycosaminuria: an inborn error of metabolism associated with mental defect. Lancet 2: 253-255
  7. Vargas-Diez E et al (2002) Angiokeratoma corporis diffusum in a spanish patient with aspartylglucosaminuria. Br J Dermatol 147: 760-764

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer