A new N-acetyl-beta-D-hexosaminidase disease with late onset of progressive neurological symptoms
Author
Summary, in English
Clinical data are presented on a 30-year-old male with normal early development (4-5 years) but subsequent progressive impairment of psychomotor functions. He has marked kyphoscoliosis and talipes calcaneo-valgus. The organs appear normal and the patient can walk unaided and feed himself although he does not recognize his parents. He has normal fundi oculi. Biochemical data show an absence of mucopolysacchariduria and very low but detectable levels of N-acetyl-beta-D-hexosaminidase in serum and leucocytes. The clinical symptoms are much milder than would normally be expected from such a profound enzyme deficiency (Sandhoff disease).
Publishing year
1979
Language
English
Pages
124-128
Publication/Series
Human Heredity
Volume
29
Issue
2
Document type
Journal article
Publisher
Karger
Topic
- Medical Genetics
Status
Published
ISBN/ISSN/Other
- ISSN: 1423-0062