Salla disease variant in a Dutch patient

Mancini, Grazia M.S.; Hu, P.; Verheijen, Frans W.; Diggelen, O. P. van; Janse, H.C.; Kleijer, Wim J.; Beemer, F. A.; Jennekens, F. G. I.

doi:10.1007/bf01957729

Cited by 24 publications

(1 citation statement)

References 34 publications

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“…In CVS or cultured fibroblasts/amniocytes HPLC with pulsed amperometric detection has been used (Renlund and Aula 1987, Renlund et al 1986). The thiobarbituric assay can be used for cell homogenates, but requires extensive sample clean-up by ion exchange chromatography (Mancini et al 1992). …”

Section: Introductionmentioning

confidence: 99%

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC‐MS/MS

Bosch

Oemardien

Srebniak

et al. 2011

J of Inher Metab Disea

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Sialic acid storage disease (SASD) is an inborn error resulting from defects in the lysosomal membrane protein sialin. The SASD phenotypical spectrum ranges from a severe presentation, infantile sialic acid storage disease (ISSD) which may present as hydrops fetalis, to a relatively mild form, Salla disease. Screening for SASD is performed by determination of free sialic acid (FSA) in urine or amniotic fluid supernatant (AFS). Subsequent diagnosis of SASD is performed by quantification of FSA in cultured fibroblasts and by mutation analysis of the sialin gene, SLC17A5. We describe simple quantitative procedures to determine FSA as well as conjugated sialic acid in AFS, and FSA in cultured fibroblasts, using isotope dilution (13C3-sialic acid) and multiple reaction monitoring LC-ESI-MS/MS. The whole procedure can be performed in 2–4 h. Reference values in AFS were 0–8.2 μmol/L for 15–25 weeks of gestation and 3.2-12.0 μmol/L for 26–38 weeks of gestation. In AFS samples from five fetuses affected with ISSD FSA was 23.9-58.9 μmol/L demonstrating that this method is able to discriminate ISSD pregnancies from normal ones. The method was also validated for determination of FSA in fibroblast homogenates. FSA in SASD fibroblasts (ISSD; 20–154 nmol/mg protein, intermediate SASD; 12.9-15.1 nmol/mg, Salla disease; 5.9-7.4 nmol/mg) was clearly elevated compared to normal controls (0.3-2.2 nmol/mg). In conclusion, we report simple quantitative procedures to determine FSA in AFS and cultured fibroblasts improving both prenatal diagnostic efficacy for ISSD as well as confirmatory testing in cultured fibroblasts following initial screening in urine or AFS.

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Section: Introductionmentioning

confidence: 99%

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC‐MS/MS

Bosch

Oemardien

Srebniak

et al. 2011

J of Inher Metab Disea

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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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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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Salla disease variant in a Dutch patient

Cited by 24 publications

References 34 publications

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC‐MS/MS

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC‐MS/MS

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

Clinical spectrum of infantile free sialic acid storage disease

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