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Clinical Chemistry 47: 2068, 2001;
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(Clinical Chemistry. 2001;47:2068.)
© 2001 American Association for Clinical Chemistry, Inc.

Letters

Retrospective Diagnosis of GM1 Gangliosidosis by Use of a Newborn-Screening Card

Néstor A. Chamoles1a, Mariana B. Blanco1, Sonia Iorcansky2, Daniela Gaggioli1, Norma Spécola3 and Carina Casentini1

1 Laboratory of Neurochemistry, Uriarte 2383, 1425 Buenos Aires, Argentina

2 Laboratory of Newborn Screening, "Dr. J. P. Garrahan", Children’s Hospital, 1245 Buenos Aires, Argentina

3 Pediatric Neurology, "Sor M. Ludovica" Children’s Hospital, 1900 La Plata, Argentina

aAuthor for correspondence. Fax 5411-4774-5920; e-mail nachamoles@fibertel.com.ar.


To the Editor:

A deficiency of lysosomal ß-D-galactosidase (ßG; EC 3.2.1.23) is the primary defect in the three clinical forms (infantile, juvenile, and adult) of GM1 gangliosidosis and in Morquio B syndrome. Patients with the infantile form of GM1 gangliosidosis (type 1), who usually die before the age of 3 years, display the coarse face, hepatosplenomegaly, and skeletal dysplasia reminiscent of Hurler disease. Cases with later onset, described as the late infantile/juvenile form (type 2), display progressive psychomotor loss but less prominent dysmorphic changes. Extrapyramidal signs of protracted course are the major neurologic manifestations . . . [Full Text of this Article]


References




The following articles in journals at HighWire Press have cited this article:


Home page
 Clin. Chem.Home page
E. Parkinson-Lawrence, M. Fuller, J. J. Hopwood, P. J. Meikle, and D. A. Brooks
Immunochemistry of Lysosomal Storage Disorders
Clin. Chem., September 1, 2006; 52(9): 1660 - 1668.
[Abstract] [Full Text] [PDF]


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