Multiple sulfatase deficiency also known as austin disease, and mucosulfatidosis is a very rare autosomal recessive. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types. Placental sulfatase deficiency and congenital ichthyosis with. The sts gene is composed of 562 amino acids, and like the name steroid sulfatase suggests, it is classified as a hydrolase enzyme hernandezguzman et al. Children with this condition are missing essential enzyme activity for normal cellular functions. Xlinked ichthyosis frequently improves in the summer. The sts gene encodes steroid sulfatase, a membranebound microsomal enzyme that is ubiquitously expressed and hydrolyzes several 3betahydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cholesterol stein et al. Steroid sulfatase contributes to systemic androgen activation. Steroid sulfatase deficiency and androgen activation before and after puberty jan idkowiak, angela e. Pdf placental steroid sulphatase deficiency ssd is an xlinked inborn error of metabolism. Effect of steroid sulfatase sts on sex selective disorders.
Statistical manual of mental disorders, fifth edition. Ichthyosis, x linked nord national organization for rare. Multiple sulfatase deficiency is a very rare hereditary metabolic disorder in which all of the known sulfatase enzymes thought to be seven in number are deficient or inoperative. The neonatal type is the most severe form, with symptoms develop. This deficiency can result in low levels of estrogen during pregnancy in the mother of an affected fetus, hampering labor progression, and often requiring csection. Mar 15, 2016 if you have problems viewing pdf files, download the latest version of adobe reader. Oneil1, sandra subtil1, raymon vijzelaar2, renuka p dias3, rakesh amin4. The limited clinical literature documents several cases of. The documents contained in this web site are presented for information purposes only. Pdf steroid sulfatase deficiency and androgen activation.
Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. This condition causes extremely dry skin, which may be very itchy and have a dark appearance. Multiple sulfatase deficiency genetics home reference nih. Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. Revealing answers to complex questions revealsm snp microarray is a high density copy number array that can also detect copy neutral changes such as uniparental disomy upd and consanguinity. Over time, cells in the body, including brain cells, clog up and become toxic. Treatment steroid sulfatase deficiency x linked ichthyosis. About msd msd action foundation multiple sulfatase deficiency. Multiple sulfatase deficiency nord national organization. Xlinked ichthyosis with steryl sulfatase deficiency. Pdf pitfalls in the diagnosis of multiple sulfatase deficiency.
The gene sulfatasemodifying factor 1 sumf1, recently identified, encodes the enzyme responsible for posttranslational modification of a cysteine residue, which is essential for the activity of sulfatases. Xlinked ichthyosis with sterylsulfatase deficiency. The signs and symptoms of this condition vary widely, prompting researchers to divide it into three types. When boys affected with steroid sulfatase deficiency are delivered, the lack of the enzyme in the placenta may cause birth complications. Working towards a cure for multiple sulfatase deficiency.
Affected boys later develop large, polygonal, dark brown scales, especially on the neck, extremities, trunk, and. Fulltext pdf prenatal diagnosis of placental steroid sulfatase deficiency. Multiple sulfatase deficiency with neonatal manifestation. Multiple sulfatase deficiency msd is a genetic condition in children that is rapidly degenerative and fatal. Metachromatic leukodystrophy mld is a lysosomal storage disorder caused by a deficiency of the arylsulfatase a arsa enzyme, which leads to the accumulation of sulfatides both galactosyl and lactosyl sulfatide in the white matter of the central nervous system, the peripheral nervous system, and to a lesser extent, in visceral organs including the kidney and gallbladder. Xlinked recessive ichthyosis recessive xlinked ichthyosis or rxli is a skin disorder that manifests as dry scales, resulting in a roughdry skin texture. Steroid sulfatase is a potential modifier of cognition in. Multiple sulfatase deficiency msd, omim 272200 is an autosomal recessive leukodystrophy associated with the deficiency of several, in total seven, sulfatases. Steroid sulfatase deficiency and androgen activation before. The condition is caused by a deficiency of steroid sulfatase.
For language access assistance, contact the ncats public information officer. This xlinked disorder has an estimated frequency of 1 in 2000 to 1 in 6000 males, and 1 in 2000 women are estimated to be carriers. Maternal peripheral blood metaphase spreads may display 2 hybridization signals on one of the x chromosomes 1 in the sts region band xp22. Msd action foundation supports promising international research for msd. Xli can also occur in the context of larger deletions causing contiguous gene syndromes. Multiple sulfatase deficiency omim 272200 includes severe neurodegenerative disease, similar to metachromatic leukodystrophy, ichthyosis, and signs of mucopolysaccharidosis.
Mar 31, 2020 xlinked ichthyosis with steryl sulfatase deficiency. Ichthyoses or disorders of cornification are general terms describing a group of scaly skin disorders. Steroid sulfatase definition of steroid sulfatase by. Mar 22, 2016 steroid sulfatase sts cleaves the sulfate moiety off steroid sulfates, including dehydroepiandrosterone dhea sulfate dheas, the inactive sulfate ester of the adrenal androgen precursor dhea. Msd is often confused for a single sulfatase deficiency because it is characterized by deficiency of all known sulfatases, which results in tissue accumulation of sulfatides, sulfated glycoaminoglycans, sphingolipids, and steroid sulfates. It turns out not only to be inherited in an xlinked recessive manner, but to. Multiple sulfatase deficiency an overview sciencedirect. Steroid sulfatase deficiency and androgen activation. Mim272200 an inherited disorder autosomal recessive in which there is a failure to hydrolyze sulfatides and sulfated mucopolysaccharides. Ichthyosis, x linked nord national organization for. If you have problems viewing pdf files, download the latest version of adobe reader.
In 2003, ingordo and associates reported their assessment of the frequency of xlinked ichthyosis in a large representative sample of the italian male population. It is considered axiomatic in human genetics that the study of relatively rare disorders may yield far more in dividends than might be anticipated based on the incidence of the condition in question. Xlinked ichthyosis can be diagnosed prenatally using fluorescence in situ hybridization. The gene sulfatase modifying factor 1 sumf1, recently identified, encodes the enzyme responsible for posttranslational modification of a cysteine residue, which is essential for the activity of sulfatases. Cognitive, behavioural and psychiatric phenotypes associated with. The girl is the first child of healthy, nonconsanguineous parents. The structure of steroid sulfatase includes 2 antiparallel alpha helices that give the protein a. Sulfatase modifying factor 1 is responsible for the posttranslational modification of a highly conserved cysteine residue to a unique formylglycine residue in the active site of the sts enzyme that is crucially required for catalytic activity. Steroid sulfatase deficiency and androgen activation before and. The structure of steroid sulfatase includes 2 antiparallel alpha helices that give the protein a mushroomlike shape hernandezguzman et al.
Deficient dhea sulfation, the opposite enzymatic reaction. Xli manifests with dry, scaly skin and is due to deletions or mutations in the sts gene. Steroid sulphatase deficiency which started out as a curious placental microsomal enzyme deficiency associated with low maternal urinary oestrogen excretion and difficulties in delivery, first described only twelve years ago, has now become a generalized enzyme deficiency associated also with a common skin disease. This has clearly been demonstrated in studies of human steroid sulfatase deficiency and the steroid sulfatase system during the past few years. A keratinization disorder manifesting with mild erythroderma and generalized exfoliation of the skin within a few weeks after birth. Steroid sulfatase an overview sciencedirect topics. Feb 24, 2016 multiple sulfatase deficiency is a lysosomal storage disorder that mainly affects the brain, skin, and skeleton. Multiple sulfatase deficiency is a lysosomal storage disorder that mainly affects the brain, skin, and skeleton. Bergner ea, shapiro lj 1981 increased cholesterol sulfate in plasma and red blood cell membranes of steroid sulfatase deficient patients.
Xlinked ichthyosis steroid sulfatase deficiency is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. Pdf xlinked ichthyosis steroid sulfatase deficiency is associated. Research of steroid sulfatase deficiency disease has been linked to sarcoma, neoplasms, malignant neoplasms, soft tissue neoplasms, neoplasm metastasis. Informational site on steroid sulfatase deficiency x linked icthyosis. Xlinked ichthyosis, also known as steroid sulfatase deficiency and xlinked recessive ichthyosis, is a congenital skin disorder classified in 1965 by wells and kerr.
Previously, xlinked ichthyosissteroid sulfatase deficiency has been associated with developmental and. Diagnosis steroid sulfatase deficiency xlinked ichthyosis. Funding is urgently needed to push research forward and stop this rapidly degenerative and fatal condition. Comparisons can be useful for a differential diagnosis. Xlinked ichthyosis and xlinked placental sulfatase deficiency. Steroid sulfatase contributes to systemic androgen activation in prepubertal boys lessons from steroid sulfatase deficiency jan idkowiak1, angela taylor1, donna m. Sts is expressed in the skin, and its deficiency in this tissue has been linked to the dermatological condition xlinked ichthyosis. Placental steroid sulfatase deficiency was diagnosed on the basis of a very low total. Babies with xlinked ichthyosis often appear normal when they are born, but the skin abnormalities will almost always show up by their first birthday. She was born by vaginal delivery at week 40 with birth weight of 2,815 g, length 46 cm, and head circumference 32 cm. Pdf xlinked ichthyosis xli steroid sulfatase deficiency is caused by deletions or point mutations of the steroid sulfatase sts gene on. Steroid sulfatase and sulfuryl transferase activity in monkey brain tissue.
Multiple sulfatase deficiency msd is a rare disorder characterized by impaired activity of all known sulfatases. Fish test menu constitutional numerical aberrations subtelomeric deletions steroid sulfatase deficiency kallmann syndrome turner syndrome 45,x yp deletion 1p36 deletion 3q29 deletion wolfhirschhorn syndrome criduchat syndrome sotos region deletion williams syndrome angelmanpraderwilli syndrome angelmanpraderwilli syndrome miller. Xlinked ichthyosis genetic and rare diseases information. Steroid sulfatase sts cleaves the sulfate moiety off steroid sulfates, including dehydroepiandrosterone dhea sulfate dheas, the inactive sulfate ester of the adrenal androgen precursor dhea. This panel of 3 sulfatase enzymes is intended for patients with a diagnosis or clinical suspicion of multiple sulfatase deficiency.
The topic steroid sulfatase deficiency disorder you are seeking is a synonym, or alternative name, or is closely related to the medical condition xlinked recessive ichthyosis. Major symptoms include mildly coarsened facial features, deafness, and an enlarged liver and spleen hepatosplenomegaly. Steroid sulfatase sts deficiency is one of the most common human inborn errors of metabolism. Multiple sulfatase deficiency definition, symptoms, and treatment options. Xlinked ichthyosis abbreviated xli is a skin condition caused by the hereditary deficiency of the steroid sulfatase sts enzyme that affects 1 in 2000 to 1 in 6000 males. Xlinked ichthyosis associated with psychosis and behavioral. Sts deficiency stsd due to deletions or inactivating mutations in the xlinked sts gene manifests with ichthyosis, but androgen synthesis. In addition, it is possible that cofactors of sts could exhibit age and sex steroid dependent changes. Get a printable copy pdf file of the complete article 3. Multiple sulfatase deficiency definition of multiple. The study of steroid sulfatase deficiency disease has been mentioned in research publications which. Symptoms of the following disorders may be similar to those of xlinked ichthyosis.
Multiple sulfatase deficiency genetic and rare diseases. It turns out not only to be inherited in an xlinked recessive manner, but. Diagnosis steroid sulfatase deficiency x linked ichthyosis. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree.
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