Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease

Paschke, Eduard; Gruber, Wilfried; Ring, E; Sperl, Wolfgang

doi:10.1007/bf01800343

Cited by 7 publications

(3 citation statements)

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“…The occurrence of nephrotic syndrome in ISSD may be related to the unavailability of circulating free sialic acid to form sialoproteins. However, there is no known correlation between the severity of the disease and the occurrence of nephrotic syndrome in ISSD [Paschke et al, 1992]. Including our two infants, cardiomegaly was found in nine children [Cameron et al, 1990;Cooper et al, 1988;Hale et al, 1995;Paschke et al, 1986;Pueschel et al, 1988;Schleutker et al, 1995;Stevenson et al, 1983].…”

Section: Discussionmentioning

confidence: 86%

Clinical spectrum of infantile free sialic acid storage disease

et al. 1999

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Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic disorder caused by a lysosomal membrane transport defect, resulting in accumulation of free sialic acid within lysosomes. Only a few cases have been described. We report on three new cases of ISSD with different modes of presentation: an infant with nephrotic syndrome, a case of fetal and neonatal ascites with heart failure, and a case of fetal ascites with esophageal atresia type III. From these patients and a review of the literature (27 cases total) we draw the following conclusions. 1) ''Coarse facies,'' fair complexion, hepatosplenomegaly, and severe psychomotor retardation are constant findings in this disorder. 2) Nephrotic syndrome occurred in most cases (four in seven) in which renal evaluation was performed. Therefore, ISSD is an important cause of nephrosis in infants with a storage disorder phenotype. 3) Fetal/neonatal ascites or hydrops was the mode of presentation in 13 (60%) of 21 cases. Thus, ISSD enters in the differential diagnosis of hydrops fetalis with a storage disease phenotype. 4) Cardiomegaly was evident in nine cases. 5) Corneae were always clear, and albinoid fundi were reported in five cases. 6) Dysostosis multiplex was not prominent. 7) Bone marrow aspiration could be negative. 8) Death ensued in early infancy with a mean age of 13.1 months. All reported deaths were caused by respiratory infections. Am. J. Med. Genet. 82:385-391, 1999.

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Section: Discussionmentioning

confidence: 86%

Clinical spectrum of infantile free sialic acid storage disease

et al. 1999

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“…The diagnosis of SASD is based on clinical presentations in combination with detection of free sialic acid urinary excreted in an important amount [13]. The quantification of free sialic acid in tissues and urine of patients can be classically performed using thiobarbituric acid (TBA)based assays [14,15]. The GC-MS can also be used to identify and quantify free sialic acid in urine, as its carboxymethylated peracetylated derivative, for the diagnosis of SASD [16].…”

Section: Introductionmentioning

confidence: 99%

A mass spectrometric strategy for profiling glycoproteinoses, Pompe disease, and sialic acid storage diseases

Faid

Morelle

2008

Proteomics Clinical Apps

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Glycoproteinoses, Pompe disease, and sialic acid storage diseases are characterized by a massive accumulation of unprocessed oligosaccharides and/or glycoconjugates in urine. The identification of these glycocompounds is essential for a proper diagnosis. In this study, we investigated the potential of MALDI-TOF-MS to identify glycocompounds present in urine from patients with different inborn errors of glycan metabolism. Urinary glycocompounds were permethylated, and analyzed using GC-MS and MALDI-TOF-MS. In order to confirm tentative assignments, a second aliquot of urine was purified on a C18 Sep-Pak cartridge and glycocompounds were desalted on a column of nonporous graphitized carbon. The glycocompounds were then sequentially on-plate digested using an array of exoglycosidases. A range of disease-specific oligosaccharides as well as glycopeptides was identified for all oligosacchariduria models. In addition, free sialic acid accumulated in urine from a patient suffering from French-type sialuria, has been detected by a GC-MS approach, which could be applied to other sialic acid storage diseases. This procedure is simple, and can be performed in few simple steps in less than 24 h. This current method can be applied for newborn screening for other inherited metabolic diseases as well as for assessing treatments in clinical trials.

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“…Other symptoms included neonatal ascites [Gillan et al, 1984;Hancock et al, 19821, cardiomegaly [Cameron et al, 1990 ;Stevenson et al, 19831, umbilical and inguinal hernias [Stevenson et al, 1983 ;Tondeur et al, 19821 and foot deformities [Stevenson et al, 1983 ;Tondeur et al, 19821. Other described symptoms of steroidresistant nephrotic syndrome [Paschke et al, 1992;Sped et al, 19901 and dysostosis multiplex [Stevenson et al, 19831 were not present. The cause of ascites in ISSD remains obscure.…”

Section: Discussionmentioning

confidence: 96%

The spectrum of free neuraminic acid storage disease in childhood: Clinical, morphological and biochemical observations in three non-Finnish patients

et al. 1996

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N‐acetylneuraminic acid (sialic acid) storage disease is a rare autosomal recessive lysosomal disorder: Clinically two major forms exist, an infantile type with severe progression leading to early death, and a milder form (Salla disease) with a protracted course. Intermediate forms may also exist. Diagnosis rests on the determination of an excessive excretion of sialic acid in urine and concomitant storage in fibroblasts, the severe forms exhibiting the highest excretion and storage. We present clinical, morphological, and biochemical data on three non‐Finnish patients with sialic acid storage disease. Patient 1 was a preterm infant with neonatal ascites, coarse face, hepatosplenomegaly, pale skin, and wispy hair. vacuolated lymphocytes were abundant in a peripheral blood smear and he excreted large amounts of free sialic acid. High levels of free sialic acid were also found in cultured skin fibroblasts. He died at age 6 months from progressive respiratory insufficiency. Patient 2 was an 11‐month‐old Egyptian girl with coarse face, frequent upper respiratory tract infections, hepatosplenomegaly, and severe psychomotor retardation. Sialic acid excretion was elevated, likewise the storage in fibroblasts. histological investigations documented vacuolar storage in a skin biopsy and in iliac crest tissue. Patient 3 was a 16‐year‐old girl with slightly coarse face, severe generalized muscular hypotonia, ataxia, and kyphoscoliosis originally diagnosed as having post‐partum asphyxia. She suffered progressive motor function loss and had dysarthria. Urinary sialic acid was elevated and a skin biopsy demonstrated vacuolization. The clinical variability of sialic acid storage disease is exemplified by these three cases. Simple urinary screening for free sialic acid facilitates the diagnosis. The degree of urinary excretion may indeed correlate with clinical presentation and progression. © 1996 Wiley‐Liss, Inc.

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Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease

Cited by 7 publications

References 24 publications

Clinical spectrum of infantile free sialic acid storage disease

Clinical spectrum of infantile free sialic acid storage disease

A mass spectrometric strategy for profiling glycoproteinoses, Pompe disease, and sialic acid storage diseases

The spectrum of free neuraminic acid storage disease in childhood: Clinical, morphological and biochemical observations in three non-Finnish patients

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