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Sphingolipidosis

MedGen UID:: 52453
•Concept ID:: C0037899
•: Disease or Syndrome

Synonym:	Sphingolipidoses
SNOMED CT:	Sphingolipidosis (238028008)

Monarch Initiative:	MONDO:0019255
Orphanet:	ORPHA79225

Definition

An inherited metabolic disorder that affects the metabolism of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. [from NCI]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSphingolipidosis

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Inborn genetic diseases
  - Inborn errors of metabolism
    - Inherited lipid metabolism disorder
      - Sphingolipidosis
        Autosomal recessive cerebellar ataxia with late-onset spasticity
        Combined PSAP deficiency
        Fabry disease
        Farber lipogranulomatosis
        Galactosylceramide beta-galactosidase deficiency
        Adult Krabbe disease
        Infantile Krabbe disease
        Late-infantile/juvenile Krabbe disease
        Gangliosidosis
        GM1 gangliosidosis
        GM1 gangliosidosis type 2
        GM1 gangliosidosis type 3
        Infantile GM1 gangliosidosis
        GM2 gangliosidosis
        Sandhoff disease
        Tay-Sachs disease
        Tay-Sachs disease, variant AB
        Gaucher disease
        Gaucher disease due to saposin C deficiency
        Gaucher disease perinatal lethal
        Gaucher disease type 3A
        Gaucher disease type 3B
        Gaucher disease type I
        Gaucher disease type II
        Gaucher disease type III
        Gaucher disease, Norrbottnian type
        Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
        Metachromatic leukodystrophy
        Metachromatic leukodystrophy, adult type
        Metachromatic leukodystrophy, juvenile type
        Metachromatic leukodystrophy, late infantile form
        Multiple sulfatase deficiency
        Sea-blue histiocyte syndrome
        Sphingomyelin/cholesterol lipidosis
        Acid sphingomyelinase deficiency
        Chronic neurovisceral acid sphingomyelinase deficiency
        Niemann-Pick disease type E
        Niemann-Pick disease, type A
        Niemann-Pick disease, type B
        Niemann-Pick disease, type C
        Niemann-Pick disease type C, adult neurologic onset
        Niemann-Pick disease type C, juvenile neurologic onset
        Niemann-Pick disease type C, late infantile neurologic onset
        Niemann-Pick disease type C, severe early infantile neurologic onset
        Niemann-Pick disease type C, severe perinatal form
        Niemann-Pick disease, type C1
        Niemann-Pick disease, type C2
        Sulfatidoses

Follow this link to review classifications for Sphingolipidosis in Orphanet.

Professional guidelines

PubMed

Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.

Wu THY, Brown HA, Church HJ, Kershaw CJ, Hutton R, Egerton C, Cooper J, Tylee K, Cohen RN, Gokhale D, Ram D, Morton G, Henderson M, Bigger BW, Jones SA
Mol Genet Metab 2024 May;142(1):108349. Epub 2024 Feb 20 doi: 10.1016/j.ymgme.2024.108349. PMID: 38458124

Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.

Oliva P, Schwarz M, Mechtler TP, Sansen S, Keutzer J, Prusa AR, Streubel B, Kasper DC
Mol Genet Metab 2023 May;139(1):107563. Epub 2023 Mar 30 doi: 10.1016/j.ymgme.2023.107563. PMID: 37086570

Gaucher's disease in Lithuania: its diagnosis and treatment.

Kleinotienė G, Tylki-Szymanska A, Czartoryska B
Medicina (Kaunas) 2011;47(7):405-11. PMID: 22112991

See all (5)

Recent clinical studies

Etiology

Gene Therapy of Sphingolipid Metabolic Disorders.

Shaimardanova AA, Solovyeva VV, Issa SS, Rizvanov AA
Int J Mol Sci 2023 Feb 11;24(4) doi: 10.3390/ijms24043627. PMID: 36835039 Free PMC Article

Lysosphingolipid urine screening test using mass spectrometry for the early detection of lysosomal storage disorders.

Kelkel MA, Boutin M, Curado F, Bauer P, Beauregard-Lacroix É, Mercier FE, Maranda B, Menkovic I, Martineau T, Auray-Blais C
Bioanalysis 2022 Mar;14(5):289-306. Epub 2022 Feb 4 doi: 10.4155/bio-2021-0259. PMID: 35118880

Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.

Schlotawa L, Adang LA, Radhakrishnan K, Ahrens-Nicklas RC
Int J Mol Sci 2020 May 13;21(10) doi: 10.3390/ijms21103448. PMID: 32414121 Free PMC Article

Primary adrenal insufficiency: New genetic causes and their long-term consequences.

Buonocore F, Achermann JC
Clin Endocrinol (Oxf) 2020 Jan;92(1):11-20. Epub 2019 Oct 30 doi: 10.1111/cen.14109. PMID: 31610036 Free PMC Article

Cholesterol regulation of rab-mediated sphingolipid endocytosis.

Takahashi M, Kobayashi T
Glycoconj J 2009 Aug;26(6):705-10. Epub 2008 Oct 8 doi: 10.1007/s10719-008-9191-z. PMID: 18841464

See all (21)

Diagnosis

Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.

Schlotawa L, Adang LA, Radhakrishnan K, Ahrens-Nicklas RC
Int J Mol Sci 2020 May 13;21(10) doi: 10.3390/ijms21103448. PMID: 32414121 Free PMC Article

Primary adrenal insufficiency: New genetic causes and their long-term consequences.

Buonocore F, Achermann JC
Clin Endocrinol (Oxf) 2020 Jan;92(1):11-20. Epub 2019 Oct 30 doi: 10.1111/cen.14109. PMID: 31610036 Free PMC Article

A novel association between angiokeratoma corporis diffusum and acid sphingomyelinase deficiency.

Bhoyrul B, Wright D, Heptinstall L, Barski R, Berry I, Clark S
Pediatr Dermatol 2019 Nov;36(6):906-908. Epub 2019 Oct 2 doi: 10.1111/pde.13889. PMID: 31576605

Acid ceramidase deficiency: Farber disease and SMA-PME.

Yu FPS, Amintas S, Levade T, Medin JA
Orphanet J Rare Dis 2018 Jul 20;13(1):121. doi: 10.1186/s13023-018-0845-z. PMID: 30029679 Free PMC Article

Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism.

Tran C, Barbey F, Lazor R, Bonafé L
Respiration 2017;94(1):2-13. Epub 2017 May 16 doi: 10.1159/000475762. PMID: 28505614

See all (33)

Therapy

Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.

Zhao P, Liu ID, Hodgin JB, Benke PI, Selva J, Torta F, Wenk MR, Endrizzi JA, West O, Ou W, Tang E, Goh DL, Tay SK, Yap HK, Loh A, Weaver N, Sullivan B, Larson A, Cooper MA, Alhasan K, Alangari AA, Salim S, Gumus E, Chen K, Zenker M, Hildebrandt F, Saba JD
J Inherit Metab Dis 2020 Sep;43(5):1131-1142. Epub 2020 May 4 doi: 10.1002/jimd.12238. PMID: 32233035 Free PMC Article

Correlations Between Serum Cholesterol and Vascular Lesions in Fabry Disease Patients.

Katsuta H, Tsuboi K, Yamamoto H, Goto H
Circ J 2018 Nov 24;82(12):3058-3063. Epub 2018 Oct 3 doi: 10.1253/circj.CJ-18-0378. PMID: 30282881

Gaucher's disease in Lithuania: its diagnosis and treatment.

Kleinotienė G, Tylki-Szymanska A, Czartoryska B
Medicina (Kaunas) 2011;47(7):405-11. PMID: 22112991

A cytometric study of the red blood cells in Gaucher disease reveals their abnormal shape that may be involved in increased erythrophagocytosis.

Bratosin D, Tissier JP, Lapillonne H, Hermine O, de Villemeur TB, Cotoraci C, Montreuil J, Mignot C
Cytometry B Clin Cytom 2011 Jan;80(1):28-37. doi: 10.1002/cyto.b.20539. PMID: 20568298

Replacement therapy with imiglucerase for type 1 Gaucher's disease.

Zimran A, Elstein D, Levy-Lahad E, Zevin S, Hadas-Halpern I, Bar-Ziv Y, Foldes J, Schwartz AJ, Abrahamov A
Lancet 1995 Jun 10;345(8963):1479-80. doi: 10.1016/s0140-6736(95)91038-7. PMID: 7769903

See all (6)

Prognosis

Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.

The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.

Hülsmeier AJ, Toelle SP, Bellstedt P, Wentzel C, Bahr A, Kolokotronis K, Hornemann T
J Lipid Res 2023 Dec;64(12):100464. Epub 2023 Oct 27 doi: 10.1016/j.jlr.2023.100464. PMID: 37890668 Free PMC Article

The incidence rate of hospitalized lysosomal storage diseases in Poland in 2013-2015 based on data from the National Health Fund.

Grzeszczak W, Franek E, Szypowska A, Filipow W, Zięba M, Kabicz P, Więckowska B
Pediatr Endocrinol Diabetes Metab 2021;27(3):191-198. doi: 10.5114/pedm.2021.107715. PMID: 34498441 Free PMC Article

Fabry disease in cardiology practice: Literature review and expert point of view.

Hagège A, Réant P, Habib G, Damy T, Barone-Rochette G, Soulat G, Donal E, Germain DP
Arch Cardiovasc Dis 2019 Apr;112(4):278-287. Epub 2019 Feb 28 doi: 10.1016/j.acvd.2019.01.002. PMID: 30826269

Niemann-Pick type C: focus on the adolescent/adult onset form.

Di Lazzaro V, Marano M, Florio L, De Santis S
Int J Neurosci 2016 Nov;126(11):963-71. Epub 2016 Mar 29 doi: 10.3109/00207454.2016.1161623. PMID: 26998855

See all (13)

Clinical prediction guides

Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.

DEGS1 variant causes neurological disorder.

Dolgin V, Straussberg R, Xu R, Mileva I, Yogev Y, Khoury R, Konen O, Barhum Y, Zvulunov A, Mao C, Birk OS
Eur J Hum Genet 2019 Nov;27(11):1668-1676. Epub 2019 Jun 11 doi: 10.1038/s41431-019-0444-z. PMID: 31186544 Free PMC Article

Sphingosine phosphate lyase insufficiency syndrome (SPLIS): A novel inborn error of sphingolipid metabolism.

Choi YJ, Saba JD
Adv Biol Regul 2019 Jan;71:128-140. Epub 2018 Sep 25 doi: 10.1016/j.jbior.2018.09.004. PMID: 30274713 Free PMC Article

Niemann-Pick type C disease: The atypical sphingolipidosis.

Newton J, Milstien S, Spiegel S
Adv Biol Regul 2018 Dec;70:82-88. Epub 2018 Aug 28 doi: 10.1016/j.jbior.2018.08.001. PMID: 30205942 Free PMC Article

Lysosphingolipids and sphingolipidoses: Psychosine in Krabbe's disease.

Spassieva S, Bieberich E
J Neurosci Res 2016 Nov;94(11):974-81. doi: 10.1002/jnr.23888. PMID: 27638582 Free PMC Article

See all (17)

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Sphingolipidosis

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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