Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).
Am J Med Genet A
; 182(6): 1491-1495, 2020 06.
Article
en En
| MEDLINE
| ID: mdl-32216080
ABSTRACT
Mucopolysaccharidosis Type IVA (MPS IVA), also known as Morquio A syndrome, is an autosomal recessive lysosomal storage disorder that results from variants in the GALNS gene that encodes the enzyme galactosamine-6-sulfate sulfatase. This syndrome has systemic manifestations including, but not limited to, musculoskeletal, respiratory, cardiovascular, rheumatologic, neurologic, dental, ophthalmologic, and otologic. This condition is usually detected within the first few years of life with an average life expectancy of 25.3 ± 17.43 years. We report the natural history of two of the oldest known females with MPS IVA, who were each clinically diagnosed at 4 years of age and who are now 74 and 70 years of age, respectively. They are both affected by pathogenic variants c.319G>A (p.Ala107Thr) and c.824 T>C (p.Leu275Pro) in the GALNS gene.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Condroitinsulfatasas
/
Mucopolisacaridosis IV
Límite:
Aged
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Female
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Humans
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Estados Unidos