Article
MUCOLIPIDOSIS II INFANTS PRESENTING WITH SKELETAL DEFORMITIES MIMICKING RICKETS AND A NEW MUTATION IN GNPTAB GENE.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2000
Nur B G, Erdogan Y, Curek Y, Akcakus M, Oygur N, Bircan I, Mihci E
Abstract excerpt
Mucolipidosis II or I-cell disease is a rare lysosomal enzyme hydrolase trafficking due to deficient activity of the multimeric enzyme UDP-Nacetylglucosamine-l-phosphotransferase. It is a severe inborn error of lysosomal storage that causes progressive multisystem deterioration and death within the first year of life. The diagnosis of ML II is often difficult in an infant due to clinical variety, phenotypic...
Topics
- Abnormalities, Multiple
- Craniofacial Abnormalities
- DNA Mutational Analysis
- Diagnosis, Differential
- Female
- Follow-Up Studies
- Humans
- Infant
- Infant, Newborn
- Male
- Mucolipidoses
- Musculoskeletal Abnormalities
- Phenotype
- Rickets
- Transferases (Other Substituted Phosphate Groups)