Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort

Beck-Wödl, Stefanie; Kehrer, Christiane; Harzer, K.; Haack, Tobias B.; Bürger, Friederike; Haas, Dorothea; Rieß, Angelika; Groeschel, Samuel; Krägeloh‐Mann, Ingeborg; Böhringer, Judith

doi:10.1002/jmd2.12189

Cited by 3 publications

(1 citation statement)

References 39 publications

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“…A recent study by Beck-Wödl et al compared the clinical course of two patients with MSD to a broader cohort of MLD patients. Their observations suggested that patients with MSD show early onset of motor symptoms as compared to patients with juvenile MLD, but the disease progression is slow as compared to the juvenile MLD patients [20]. This is similar to what we observed for proband in case 1.…”

Section: Discussionsupporting

confidence: 88%

Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review

Sheth¹,

Shah²,

Datar

et al. 2023

BMC Pediatr

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Background Multiple sulfatase deficiency (MSD) is a rare lysosomal storage disorder caused due to pathogenic variants in the SUMF1 gene. The SUMF1 gene encodes for formylglycine generating enzyme (FGE) that is involved in the catalytic activation of the family of sulfatases. The affected patients present with a wide spectrum of clinical features including multi-organ involvement. To date, almost 140 cases of MSD have been reported worldwide, with only four cases reported from India. The present study describes two cases of late infantile form of MSD from India and the identification of a novel missense variant in the SUMF1 gene. Case presentation In case 1, a male child presented to us at the age of 6 years. The remarkable presenting features included ichthyosis, presence of irritability, poor social response, thinning of corpus callosum on MRI and, speech regression. Clinical suspicion of MSD was confirmed by enzyme analysis of two sulfatase enzymes followed by gene sequencing. We identified a novel missense variant c.860A > T (p.Asn287Ile) in exon 7 of the SUMF1 gene. In case 2, a two and a half years male child presented with ichthyosis, leukodystrophy and facial dysmorphism. We performed an enzyme assay for two sulfatases, which showed significantly reduced activities thereby confirming MSD diagnosis. Conclusion Overall, present study has added to the existing data on MSD from India. Based on the computational analysis, the novel variant c.860A > T identified in this study is likely to be associated with a milder phenotype and prolonged survival.

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Section: Discussionsupporting

confidence: 88%

Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review

Sheth¹,

Shah²,

Datar

et al. 2023

BMC Pediatr

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The discovery of penta-peptides inhibiting the activity of the formylglycine-generating enzyme and their potential antibacterial effects against Mycobacterium tuberculosis

Nicholas¹,

Mazid²,

Jeong

et al. 2022

RSC Adv.

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Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases

Jerves Serrano,

Gold,

Cooper

et al. 2024

JCM

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Clinical findings of hepatomegaly and splenomegaly, the abnormal enlargement of the liver and spleen, respectively, should prompt a broad differential diagnosis that includes metabolic, congestive, neoplastic, infectious, toxic, and inflammatory conditions. Among the metabolic diseases, lysosomal storage diseases (LSDs) are a group of rare and ultrarare conditions with a collective incidence of 1 in 5000 live births. LSDs are caused by genetic variants affecting the lysosomal enzymes, transporters, or integral membrane proteins. As a result, abnormal metabolites accumulate in the organelle, leading to dysfunction. Therapeutic advances, including early diagnosis and disease-targeted management, have improved the life expectancy and quality of life of people affected by certain LSDs. To access these new interventions, LSDs must be considered in patients presenting with hepatomegaly and splenomegaly throughout the lifespan. This review article navigates the diagnostic approach for individuals with hepatosplenomegaly particularly focusing on LSDs. We provide hints in the history, physical exam, laboratories, and imaging that may identify LSDs. Additionally, we discuss molecular testing, arguably the preferred confirmatory test (over biopsy), accompanied by enzymatic testing when feasible.

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Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort

Cited by 3 publications

References 39 publications

Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review

Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review

The discovery of penta-peptides inhibiting the activity of the formylglycine-generating enzyme and their potential antibacterial effects against Mycobacterium tuberculosis

Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases

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