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β‐Mannosidase deficiency: Heterogeneous manifestation in the first female patient and her brother
Author(s) -
Kleijer W. J.,
Hu P.,
Thoomes R.,
Boer M.,
Huijmans J. G. M.,
Blom W.,
Van Diggelen O. P.,
Seemanova E.,
Macek M.
Publication year - 1990
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800211
Subject(s) - medicine , endocrinology , heterozygote advantage , psychomotor retardation , consanguinity , pediatrics , biology , pathology , genetics , gene , alternative medicine , allele
Summary β‐Mannosidase deficiency was demonstrated in fibroblasts of a girl who showed severe psychomotor retardation, bone deformities and gargoylism and recurrent skin and respiratory infections and who died at 20 years of age from bronchopneumonia. This first demonstration of a female patient confirms the autosomal recessive inheritance of β‐mannosidosis. Further investigation of this gipsy family revealed β‐mannosidosis in an older brother with a milder manifestation of gargoyl facial dysmorphology, mental retardation, hearing impairment and recurrent infections. β‐Mannosidase activity was completely deficient in his cultured skin fibroblasts, leukocytes and plasma. In urine a characteristic disaccharide was present. Heterozygote levels of β‐mannosidase were found in fibroblasts and/or plasma of the parents and one sister.