Abstract
Two members of a consanguineous Italian family are described with the symptoms of aspartylglycosaminuria. Both patients exhibit mental retardation, some facial dysmorphism and discrete radiological abnormalities affecting the skull and vertebrae. Peripheral blood smears revealed multivacuolated lymphocytes. Enzyme studies in leucocytes and cultured fibroblasts showed an absence of aspartylglucosaminidase activity. Urinary analysis demonstrated abnormal oligosacchariduria and aspartylglycosamine excretion. Angiokeratoma corporis diffusum was observed in one patient.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / genetics*
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Acetylglucosamine / analogs & derivatives*
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Acetylglucosamine / urine
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Adult
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Amidohydrolases / deficiency*
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Aspartic Acid / analogs & derivatives*
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Aspartic Acid / urine
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Aspartylglucosaminuria*
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Child
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Fabry Disease / enzymology
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Facial Bones / abnormalities
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Female
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Glucosamine / analogs & derivatives*
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Humans
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Intellectual Disability / enzymology*
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Intellectual Disability / genetics
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Italy
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Male
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Pedigree
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Skull / abnormalities
Substances
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N-acetylglucosaminylasparagine
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Aspartic Acid
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Amidohydrolases
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Glucosamine
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Acetylglucosamine