Multiple sulfatase deficiency
| Classification according to ICD-10 | |
|---|---|
| E75.2 | Other sphingolipidoses |
| ICD-10 online (WHO version 2019) | |
Multiple sulfatase deficiency (MSD) is a very rare, to the lysosomal storage diseases associated with congenital disease with a lack of all sulfatases .
Synonyms are: multiple sulfatase deficiency; Mucosulfatidosis; Sulphatidosis juvenile, Austin type; Austin Syndrome
root cause
The disease are mutations in SUMF1 - gene on chromosome 3 locus p26.1 based encoding for the sulfatase-modifying factor -1. The mutation leads to an accelerated breakdown of sulfatases due to a deficiency in the formylglycine-generating enzyme (FGE) .
Symptoms
The disease leads to lysosomal storage diseases and also non-lysosomal diseases. Clinically, there is a combination of aryl sulfatase A deficiency , mucopolysaccharidosis type 2 ( Hunter syndrome ), type 3A and the like. 3D ( Sanfilippo syndrome ) and type 6 ( Maroteaux-Lamy syndrome ) as well as X-linked ichthyosis .
Clinical criteria are:
- Onset of illness at 1 to 2 years of age
- increased excretion of mucopolysaccharides and sulfatides
- psychomotor retardation
- Growth retardation
- Skeletal changes as in mucopolysaccharidoses
- metachromatic degeneration of myelin in peripheral nerves
- slight ichthyosis
distribution
The frequency is given as less than 1 in 1,000,000, so far about 50 people have been reported. Inheritance is autosomal - recessive .
diagnosis
The diagnosis can be made by measuring the activity of sulfatases in leukocytes .
Classification
Depending on the age of onset , three forms can be distinguished:
- Neonatal form, most severe with the onset of the disease shortly after birth, signs of leukodystrophy , growth retardation, ichthyosis and hypertrichosis , skeletal changes with scoliosis , restricted mobility in the joints and changes such as in Hurler's disease
- Late infantile form, most common with leukodystrophy and progressive loss of learned skills
- Juvenile form , the rarest with onset of the disease during (later) childhood, psychomotor regression , slower than in the late infantile form, frequent ichthyosis
history
The first description is from 1961 by the Polish neuropathologist M. Mossakowski and colleagues.
The name refers to the author of an overview from 1965 by the US neurologist James H. Austin.
literature
- U. Zilberman, H. Bibi: The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool? In: JIMD reports. Vol. 30, 2016, pp. 95-101, doi : 10.1007 / 8904_2015_523 , PMID 27344646 , PMC 5110438 (free full text).
- F. Sabourdy, L. Mourey, E. Le Trionnaire, N. Bednarek, C. Caillaud, Y. Chaix, MA Delrue, A. Dusser, R. Froissart, R. Garnotel, N. Guffon, A. Megarbane, H. Ogier de Baulny, JM Pédespan, S. Pichard, V. Valayannopoulos, A. Verloes, T. Levade: Natural disease history and characterization of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency. In: Orphanet Journal of Rare Diseases. Vol. 10, March 2015, p. 31, doi: 10.1186 / s13023-015-0244-7 , PMID 25885655 , PMC 4375846 (free full text).
- L. Garavelli, L. Santoro, A. Iori, G. Gargano, S. Braibanti, S. Pedori, N. Melli, D. Frattini, L. Zampini, T. Galeazzi, L. Padella, S. Pepe, A. Wischmeijer, S. Rosato, I. Ivanovski, L. Iughetti, C. Gelmini, S. Bernasconi, A. Superti-Furga, A. Ballabio, O. Gabrielli: Multiple sulfatase deficiency with neonatal manifestation. In: Italian journal of pediatrics. Vol. 40, December 2014, p. 86, doi: 10.1186 / s13052-014-0086-2 , PMID 25516103 , PMC 4299397 (free full text).
- T. Dierks, L. Schlotawa, MA Frese, K. Radhakrishnan, K. von Figura, B. Schmidt: Molecular basis of multiple sulfatase deficiency, mucolipidosis II / III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non -lysosomal proteins. In: Biochimica et Biophysica Acta . Vol. 1793, No. 4, April 2009, pp. 710-725, doi: 10.1016 / j.bbamcr.2008.11.015 , PMID 19124046 (review).
- A. Busche, JB Hennermann, F. Bürger, H. Proquitté, T. Dierks, A. von Arnim-Baas, D. Horn: Neonatal manifestation of multiple sulfatase deficiency. In: European Journal of Pediatrics. Vol. 168, No. 8, August 2009, pp. 969-973, doi: 10.1007 / s00431-008-0871-2 , PMID 19066960 (review).
Individual evidence
- ↑ Multiple sulfatase deficiency. In: Online Mendelian Inheritance in Man . (English)
- ↑ Thomas Dierks, Achim Dickmanns, Andrea Preusser-Kunze, Bernhard Schmidt, Malaiyalam Mariappan: Molecular Basis for Multiple Sulfatase Deficiency and Mechanism for Formylglycine Generation of the Human Formylglycine-Generating Enzyme . In: Cell . tape 121 , no. 4 , May 20, 2005, ISSN 0092-8674 , p. 541-552 , doi : 10.1016 / j.cell.2005.03.001 , PMID 15907468 ( cell.com [accessed November 19, 2019]).
- ↑ a b c Sulphatase deficiency, multiple. In: Orphanet (Rare Disease Database).
- ↑ a b Encyclopedia Dermatology
- ^ Genetics Home Reference
- ↑ M. Mossakowski, G. Mathieson, JN Cumings: On the relationship of metachromatic leucodystrophy and amaurotic idiocy. In: Brain: a journal of neurology. Vol. 84, December 1961, pp. 585-604, PMID 14476546 .
- ↑ JH Austin: Metachromatic leukodystrophy. In: CC Carter: Medical Aspects of Mental Retardation. Springfield, Ill .: Charles C Thomas (pub.) 1965, p. 768.
