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Molecular Genetics and Metabolism, 2020 Acid Sphingomyelinase Deficiency (ASMD), or Niemann-Pick type A/B disease, is a rare lipid storage disorder leading to accumulation of sphingomyelin and its precursors primarily in macrophages. The disease has a broad phenotypic spectrum ranging from a fatal infantile form with severe neurological involvement (the infantile neurovisceral type) to a ...
Johannes M F G Aerts +2 more
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Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France [PDF]
Journal of Clinical Medicine, 2022 Acid sphingomyelinase deficiency (ASMD) is a rare inherited lipid storage disorder caused by a deficiency in lysosomal enzyme acid sphingomyelinase which results in the accumulation of sphingomyelin, predominantly within cells of the reticuloendothelial system located in numerous organs, such as the liver, spleen, lungs, and central nervous system ...
Christian Lavigne +2 more
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Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency
American Journal of Medical Genetics Part A, 2020AbstractThe aim of this study was to evaluate the oral, dental, and craniofacial features of individuals affected by the chronic forms of acid sphingomyelinase deficiency (ASMD). This study comprised a sample of adult and pediatric patients (n = 8) with chronic ASMD.
Cláubia V. Bender +8 more
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Current and Emerging Treatments for Acid Sphingomyelinase Deficiency
DrugsAcid sphingomyelinase deficiency is an ultra-rare disease characterised by generalised storage of sphingomyelin, caused by deficiency of the lysosomal enzyme acid sphingomyelinase, owing to the presence of biallelic pathogenic variants in the SMPD1 gene. The main disease manifestations are in the liver, spleen, lung and bone - with some patients having
Tamires Silva Alves +2 more
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MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency
Neuroradiology, 1999MRI was performed in two siblings with the neuropathic sphingomyelinase deficiency caused by identical mixed heterozygosity in the structural acid sphingomyelinase gene. The clinical phenotype of the cases is unique in showing a rather protracted course, both having reached the fourth decade.
J, Obenberger +3 more
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The pathogenesis and treatment of acid sphingomyelinase‐deficient Niemann–Pick disease
Journal of Inherited Metabolic Disease, 2007SummaryPatients with types A and B Niemann–Pick disease (NPD) have an inherited deficiency of acid sphingomyelinase (ASM) activity. The clinical spectrum of this disorder ranges from the infantile, neurological form that results in death by 3 years of age (type A NPD) to the non‐neurological form (type B NPD) that is compatible with survival into ...
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Journal of Inherited Metabolic Disease, 2006
SummaryTwo sisters with type B Niemann–Pick disease (genotype: S436R/S436R) showed cardiac dysfunctions, not secondary to pulmonary disease, at the beginning of the third decade. In the younger sister, myocardial dysfunction was refractory to treatment, resulting in death. At autopsy, the distal branches of the coronary arteries showed narrowing of the
H, Ishii +8 more
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SummaryTwo sisters with type B Niemann–Pick disease (genotype: S436R/S436R) showed cardiac dysfunctions, not secondary to pulmonary disease, at the beginning of the third decade. In the younger sister, myocardial dysfunction was refractory to treatment, resulting in death. At autopsy, the distal branches of the coronary arteries showed narrowing of the
H, Ishii +8 more
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Imaging improvement in acid sphingomyelinase deficiency on enzyme replacement therapy
Molecular Genetics and MetabolismWilliam L, Simpson, Jaya, Ganesh
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[Acid sphingomyelinase deficiency: A review].
La Revue de medecine interneAcid sphingomyelinase deficiency, formerly known as Niemann-Pick disease types B, A/B, and B, is a rare genetic disorder. It is an inherited autosomal recessive disease, linked to mutations in the SMPD1 gene. It is a lysosomal storage disease that leads to the accumulation of sphingomyelin mainly in macrophages, resulting in a multisystemic phenotype ...
Martin, Michaud +3 more
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A novel association between angiokeratoma corporis diffusum and acid sphingomyelinase deficiency
Pediatric Dermatology, 2019AbstractAngiokeratoma corporis diffusum refers to symmetrical clusters of minute red papules in a “bathing trunk” distribution and is considered the cutaneous hallmark of Fabry disease. Acid sphingomyelinase deficiency is an autosomal recessive sphingolipidosis, which presents with massive hepatosplenomegaly, pulmonary infiltrates, and skeletal ...
Bevin Bhoyrul +5 more
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