Application of a flowchart for the detection of lysosomal storage diseases in 105 high-risk Brazilian patients.
Lysosomal storage diseases (LSD) are a group of more than 40 disorders, many of them with overlapping phenotype, in which clinical diagnosis is often difficult. Definitive diagnosis is based on enzyme assays, a large number of such assays usually being necessary during the investigation of each patient. In addition, there will frequently be a need for tissue culture in order to provide enough material for analysis. Taking into account these difficulties, we designed a flowchart for the detection of LSD that is based on 2 sets of tests requiring only random urine and heparinized blood. Here we describe this routine and report the results of its application to 105 Brazilian patients in whom a LSD was suspected. We think that the application of this rationale represents a saving of work and costs, and should be of special interest to genetic centers in developing countries.
Barth
M L
ML
Medical Genetics Unit, Clinical Hospital of Porto Alegre, Brazil.
Giugliani
R
R
Goldenfum
S L
SL
Munarski
R
R
Folberg
A
A
Lekhwani
C
C
Slade
C
C
Fensom
A H
AH
D001938:Brazil; D004796:Clinical Enzyme Tests; D002985:Clinical Protocols; D003955:Diagnostic Tests, Routine / Q000379:methods; D006801:Humans; D008247:Lysosomes / Q000201:enzymology*; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000652:urine; D012307:Risk Factors; D012886:Skull / Q000002:abnormalities