[Mucolipidosis II or "I-cell disease" in the newborn infant. 2 new cases].
Clinical and biochemical findings of two patients with neonatal mucolipidosis II are presented. Characteristic coarse facial features, shortness of stature, psychomotor retardation and vacuolated lymphocytes were observed in both cases. However, in one case symptoms presentation was earlier and course of the disease was markedly more severe, with death occurring at the age of 3 months. Biochemically similar increase of serum multiple lysosomal enzymes and decrease of fibroblast activities was demonstrated in both patients. Authors have found elevations of some acid hydrolases in sera from parents (obligate heterozygotes) of both patients and in individuals from two more families also obligated carries.
Tamés
I
I
Hospital de Cabueñes de Gijón, Sección de Neonatología.
Gracía
A
A
Aladro
A
A
Vieito
X
X
González
F A
FA
Chabas
A
A
García
A
A
D006801:Humans; D007231:Infant, Newborn; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D009081:Mucolipidoses / Q000097:blood / Q000000981:diagnostic imaging / Q000473:pathology*; D010770:Phosphotransferases / Q000172:deficiency; D011859:Radiography; D017855:Transferases (Other Substituted Phosphate Groups)
D010770:Phosphotransferases; D017855:Transferases (Other Substituted Phosphate Groups); C030012:UDP-N-acetylglucosamine-lysosomal-enzyme-N-acetylglucosaminephosphotransferase
Mucolipidosis II o "I-cell disease" en el recién nacido. Dos nuevos casos.