Clin Genet. 1992 Jun;41(6):331-4.

Human beta-mannosidosis: a 3-year-old boy with speech impairment and emotional instability.

Poenaru L, Akli S, Rocchiccioli F, Eydoux P, Zamet P.

Source

Institut Cochin de Génétique Moléculaire, INSERM U 129, Paris, France.

Abstract

Beta-mannosidosis is a recently described inherited disorder with predominantly neurological signs and symptoms as the major manifestations of the disorder. The heterogeneous manifestations of the disease have been presented in seven previous patients. We describe a further case of European descent with an infantile onset of the disease, with the features of speech impairment as the first symptom. Beta-mannosidase activity was completely deficient in the patient and a heterozygote level was found in the parents. In addition, mannosyl-N-acetylglucosamine was identified in the patient's urine in keeping with the diagnosis of beta-mannosidosis.

PMID:: 1623631; [PubMed - indexed for MEDLINE]

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Cited by 2 PubMed Central articles

A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation. [BMC Genomics. 2011]
A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation.
Huynh T, Khan JM, Ranganathan S. BMC Genomics. 2011 Nov 30; 12 Suppl 3:S22. Epub 2011 Nov 30.
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant. [BMC Med Genet. 2009]
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
Sabourdy F, Labauge P, Stensland HM, Nieto M, Garcés VL, Renard D, Castelnovo G, de Champfleur N, Levade T. BMC Med Genet. 2009 Sep 3; 10:84. Epub 2009 Sep 3.

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