Human beta-mannosidosis: a 3-year-old boy with speech impairment and emotional instability.
Clin Genet
; 41(6): 331-4, 1992 Jun.
Article
em En
| MEDLINE
| ID: mdl-1623631
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distúrbios da Fala
/
Sintomas Afetivos
/
Manosidases
/
Alfa-Manosidose
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
1992
Tipo de documento:
Article
País de afiliação:
França