Metabolic defect: aspartylglucosaminidase deficiency Other glycan degradation diseases: fucosidosis: type I, type II | mannosidosis | sialidosis: type I, type II

Current page: Aspartylglycosaminuria Select Another Disease Select disease Acid sphingomyel. def. Aspartylglycosaminuria Cystinosis Fabry disease Farber disease Fucosidosis type I Fucosidosis type II Galactosialidosis Gaucher type I Gaucher type II Gaucher type III GM1 gangliosidosis I GM1 gangliosidosis II GM1 gangliosidosis III Infantile sialic acid Krabbé disease Mannosidosis Metachr. leukodys. I Metachr. leukodys. II Metachr. leukodys. III MPS I MPS II Hunter MPS III Sanfilippo MPS IV Morquio MPS VI Maroteaux-Lamy MPS VII Sly Mucolipidosis II Mucolipidosis III Mucolipidosis IV Neuro ceroid lipof I Neuro ceroid lipof II Neuro ceroid lipof III Neuro ceroid lipof IV Pompe disease Pycnodysostosis Salla disease Sandhoff type I Sialidosis type I Sialidosis type II Tay-Sachs type I Tay-Sachs type II Tay-Sachs type III

Enzyme deficiency results in progressive accumulation of aspartylglycosamine in the tissues, spinal fluid, and urine.

Kyphosis (kyphoscoliosis)

Image Credits: Coarse facial features courtesy of The National MPS Society, Inc. Kyphosis courtesy of ram Chadda, MS.

Recurrent infections and diarrhea in the 1st few months of life. Progressive mental retardation, seizures, coarse facial features, and skeletal abnormalities evident by adolescence. Symptoms develop by 2 to 6 years of age. Early signs include clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis.

Metabolic anomalies

Facial

Brachycephaly

Microcephaly

Coarse facial features

Facial dysmorphism

Macroglossia

Pectus carinatum

Thick calvaria

Kyphosis

Scoliosis

Abnormal vertabrae size/shape

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Eye deformities

Recurrent respiratory infections

Diarrhea

Inguinal hernias

Thickened gingiva

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Macroorchidism

Speech delay

Mental deterioration in childhood

Mental retardation

Hypotonia

Spasticity

Seizures (adult)

Behavior disorder/autism

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1. Hensyl W, ed. Stedman’s Medical Dictionary. 25th ed. Baltimore: Williams & Wilkins; 1990; p. 142.

2. www.orpha.net

3. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of Lysosomal Storage Disorders. JAMA. 1999; 281: 249-254.

4. Pertti Aula, Anu Jalanko, Leena Peltonen. “Aspartylglucosaminuria”. The Metabolic and Molecular Bases of Inherited Disease, 8th Edition Online. McGraw-Hill. http://genetics.accessmedicine.com/server-java/Arknoid/amed/mmbid/co_chapters/ch141/ch141_p01.html Accessed September 2004.

5. NORD. www.rarediseases.org. Accessed October 2004.