multiple sulfatase deficiency

mul·ti·ple sul·fa·tase de·fi·cien·cy

[MIM*272200]
an inherited disorder (autosomal recessive) in which there is a failure to hydrolyze sulfatides and sulfated mucopolysaccharides; this failure leads to their accumulation in neural and extraneural tissues, causing disorders such as demyelination and facial and skeletal dysmorphism.
Farlex Partner Medical Dictionary © Farlex 2012

multiple sulfatase deficiency

A clinically and biochemically heterogeneous autosomal recessive disorder (OMIM:272200) caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation.

Clinical findings
Combined features of individual sulfatase deficiencies, such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.

Molecular pathology
Arylsulfatase A activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1, which result in defective post-translational modification of ARSA at residue Cys-69 that is not converted to 3-oxoalanin.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
Mentioned in ?
References in periodicals archive ?
Dubai: A Dubai resident's painting of a child she met during her trek to Mount Kilimanjaro will be auctioned in Louisiana in the US on September 15 to raise funds for the treatment of a three-year-old American girl who suffers from multiple sulfatase deficiency (MSD).
Expat donates painting for treatment of child in US
A drop in activity of 3 sulfatases measured in the multiplex assay would suggest the possibility of multiple sulfatase deficiency (16), but we have not tested this with DBS from appropriate patients.
High-throughput assay of 9 lysosomal enzymes for newborn screening
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.
Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.
Uso de vectores derivados de virus ademoasoeiados para el tratamiento de la enfermedad de Morquio A
There are about 40 different lysosomal storage disorders, like multiple sulfatase deficiency suffered by Pavan Tailor.
Medics 'often fail to see symptoms'
My two daughters, ages 8 and 5, have multiple sulfatase deficiency (an extremely rare genetic disorder involving severe neurologic and skeletal abnormalities).
Search & Respond
The analysis of these proteins from blood spots allowed the detection of all patients with the following disorders: MPS I ([alpha]-t-iduronidase), MPS II (iduronate-2-sulfatase), MPS IIIA (sulfamidase), MPS VI (4-sulfatase), metachromatic leukodystrophy (arylsulfatase A), Niemann-Pick disease types A and B (acid sphingomyelinase), and multiple sulfatase deficiency. It also allowed the detection of most Fabry (agalactosidase), Pompe ([beta]-glucosidase), and Gaucher disease ([beta]-glucocerebrosidase) patients, as well as patients with I-cell disease.
Immunochemistry of lysosomal storage disorders
Multiple sulfatase deficiency and the nature of the sulfatase family.
Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples
(b) %RA, mean residual activity expressed as percentage of the mean value of adult controls; MSD, multiple sulfatase deficiency; NA, not available.
Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper

Medical browser ?
Full browser ?