Free Sialic Acid Storage Disease Mimicking Cerebral Palsy and Revealed by Blood Smear Examination

2011 ◽  
Vol 158 (1) ◽  
pp. 165-165.e1 ◽  
Author(s):  
François-Guillaume Debray ◽  
Caroline Lefebvre ◽  
Stéphanie Colinet ◽  
Karin Segers ◽  
René Stevens
Keyword(s):  
Cerebral Palsy ◽  
Sialic Acid ◽  
Blood Smear ◽  
Storage Disease ◽  
Smear Examination ◽  
Blood Smear Examination ◽  
Sialic Acid Storage Disease ◽  
Free Sialic Acid

Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene

2018 ◽  
Vol 31 (10) ◽  
pp. 1155-1159
Author(s):  
Tamara Žigman ◽  
Danijela Petković Ramadža ◽  
Mario Lušić ◽  
Marija Zekušić ◽  
Dorotea Ninković ◽  
...  
Keyword(s):  
Sialic Acid ◽  
Storage Disease ◽  
Novel Mutation ◽  
Lysosomal Storage Diseases ◽  
Imaging Features ◽  
Lysosomal Storage ◽  
Biochemical Tests ◽  
Radiographic Findings ◽  
Sialic Acid Storage Disease ◽  
Free Sialic Acid

Abstract Background Infantile free sialic acid storage disease (ISSD) is a severe multisystemic disorder characterized by the accumulation of free sialic acid in lysosomes. Case presentation The patient presented prenatally with fetal ascites and large scrotal hernias, without pleural or pericardial effusion. During the infantile period, he was diagnosed with permanent isolated immunoglobulin G (IgG) hypogammaglobulinemia, which thus far has rarely been associated with ISSD. The analysis of the SLC17A5 gene revealed a novel homozygous 94 bp gene deletion. We further provide a detailed description of pre- and postnatal clinical and radiographic findings. Conclusions Fetal ascites could be the first sign of several lysosomal storage diseases (LSDs), including ISSD. The analysis of LSD gene panels is an effective approach to diagnosis in the case of non-specific symptoms and when specific biochemical tests are not easily available.

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children

2003 ◽  
Vol 120A (1) ◽  
pp. 28-33 ◽  
Author(s):  
Robert Kleta ◽  
David J. Aughton ◽  
Michael J. Rivkin ◽  
Marjan Huizing ◽  
Erin Strovel ◽  
...  
Keyword(s):  
Sialic Acid ◽  
North American ◽  
Storage Disease ◽  
Molecular Analyses ◽  
American Children ◽  
Sialic Acid Storage Disease ◽  
Free Sialic Acid

Free sialic acid storage disease

1987 ◽  
Vol 146 (2) ◽  
pp. 195-198 ◽  
Author(s):  
A. Fois ◽  
P. Balestri ◽  
M. A. Farnetani ◽  
G. M. S. Mancini ◽  
P. Borgogni ◽  
...  
Keyword(s):  
Sialic Acid ◽  
Storage Disease ◽  
Sialic Acid Storage Disease ◽  
Free Sialic Acid

scholarly journals Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity

2004 ◽  
Vol 82 (2) ◽  
pp. 137-143 ◽  
Author(s):  
Robert Kleta ◽  
Richard P Morse ◽  
Eduard Orvisky ◽  
Donna Krasnewich ◽  
Joseph Alroy ◽  
...  
Keyword(s):  
Sialic Acid ◽  
Molecular Diagnosis ◽  
Storage Disease ◽  
Disease Patient ◽  
Moderate Severity ◽  
Sialic Acid Storage Disease ◽  
Free Sialic Acid

scholarly journals Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts

1990 ◽  
Vol 268 (3) ◽  
pp. 621-625 ◽  
Author(s):  
H J Blom ◽  
H C Andersson ◽  
R Seppala ◽  
F Tietze ◽  
W A Gahl
Keyword(s):  
Sialic Acid ◽  
Storage Disease ◽  
Glucuronic Acid ◽  
Mutant Cell ◽  
Calf Serum ◽  
Cell Protein ◽  
Salla Disease ◽  
Cell Strains ◽  
Sialic Acid Storage Disease ◽  
Free Sialic Acid

Separation by h.p.l.c. and pulsed amperometric detection were employed to measure glucuronic acid (GlcUA) and other acidic monosaccharides in fibroblasts from patients with infantile free sialic acid storage disease (ISSD) and Salla disease. These lysosomal storage disorders result from defective carrier-mediated transport of free N-acetylneuraminic acid (NeuAc) out of cellular lysosomes. Three Salla disease fibroblast strains stored approx. 0.4 nmol of free GlcUA/mg of cell protein, whereas four ISSD strains stored approx. 5 nmol GlcUA/mg (normal is undetectable). The GlcUA content of the mutant cell strains, which by differential centrifugation and Percoll gradient fractionation was localized to the lysosomes, averaged 5% of the free NeuAc content of the cells. N-Glycolylneuraminic acid (NeuGc) also accumulated in ISSD cells, but only when they were grown in the presence of fetal calf serum, which contains abundant NeuGc. No other acidic monosaccharides were detected in any of the mutant cell strains. GlcUA egress studies revealed that 56% of the initial GlcUA content was lost from normal granular fractions after 2 min at 37 degrees C. For similarly loaded ISSD granular fractions, virtually no GlcUA was lost even after 6 min. The results indicate that GlcUA is recognized and transported by the lysosomal NeuAc carrier, and that GlcUA transport is impaired in the lysosomal disorders of free NeuAc storage.

Prenatal hydrops foetalis associated with infantile free sialic acid storage disease

2015 ◽  
Vol 35 (8) ◽  
pp. 850-852
Author(s):  
V. Y. Chock ◽  
K. E. Milan ◽  
A. K. Folkins ◽  
F. K. Hazard ◽  
J. A. Bernstein ◽  
...  
Keyword(s):  
Sialic Acid ◽  
Storage Disease ◽  
Sialic Acid Storage Disease ◽  
Free Sialic Acid

Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families

10.1002/pd.68 ◽  
2001 ◽  
Vol 21 (5) ◽  
pp. 354-358 ◽  
Author(s):  
Pirjo Salomäki ◽  
Nina Aula ◽  
Vesa Juvonen ◽  
Martin Renlund ◽  
Pertti Aula
Keyword(s):  
Sialic Acid ◽  
Storage Disease ◽  
Prenatal Detection ◽  
Biochemical Studies ◽  
Sialic Acid Storage Disease ◽  
Free Sialic Acid

Sialic Acid Storage Disease with Sialuria: Clinical and Biochemical Features in the Severe Infantile Type

PEDIATRICS ◽  
1983 ◽  
Vol 72 (4) ◽  
pp. 441-449
Author(s):  
Roger E. Stevenson ◽  
Mark Lubinsky ◽  
Harold A. Taylor ◽  
David A. Wenger ◽  
Richard J. Schroer ◽  
...  
Keyword(s):  
Sialic Acid ◽  
Early Diagnosis ◽  
Storage Disease ◽  
White Hair ◽  
Physical Impairments ◽  
Sialic Acid Storage Disease ◽  
Free Sialic Acid ◽  
Coarse Facies ◽  
Biochemical Features ◽  
Infantile Type

Two unrelated infants with a new disorder characterized biochemically by elevated levels of free sialic acid in urine, serum, and cell lysates have exhibited severe mental and physical impairments since the early weeks of life. Three other biochemically diagnosed cases and two possible cases from the earlier literature are reviewed to delineate this condition. Clinical features including sparse, white hair, coarse facies, hepatosplenomegaly, profound inactivity, diarrhea, and anemia permit early diagnosis of this neurovisceral storage disease.

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