Інші лізосомні розлади
Disease (OMIM Number) | Defective Proteins or Enzymes | Comments |
|---|---|---|
Pycnodysostosis (265800*) | Cathepsin K | Onset: Early childhood Urine metabolites: None Clinical features: Short stature, frontal and occipital prominence, delayed closure of anterior fontanel, micrognathia, narrow palate, delayed eruption and persistence of deciduous teeth, hypodontia, aplasia or hypoplasia of clavicles, osteosclerosis, susceptibility to fracture, scoliosis, spondylolysis, brachydactyly, grooved nails Treatment: Supportive care, growth hormone possibly helpful |
Glutamyl ribose-5-phosphate storage disease (305920*) | ADP-ribose protein hydrolase | Onset: First year Urine metabolites: Proteinuria Clinical features: Coarse facies, hypotonia, muscle wasting and atrophy, loss of speech and vision, seizures, neurologic deterioration, optic atrophy, nephrosis, hypertension, renal failure, developmental disabilities Treatment: Supportive care |
Glycogen storage disease type 2 (Pompe disease; 232300*) | See table Glycogen Storage Diseases and Disorders of Gluconeogenesis | — |
* For complete gene, molecular, and chromosomal location information, see the Online Mendelian Inheritance in Man (OMIM) database. | ||