lipochondrodystrophy

(redirected from Hurler syndrome)
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Related to Hurler syndrome: Hunter syndrome
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Noun1.lipochondrodystrophy - hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
mucopolysaccharidosis - any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues
References in periodicals archive ?
The positive results obtained in Hurler syndrome and few other LSDs and the benefit observed in our on going Phase I/II clinical trial of HSC gene therapy for the demyelinating LSD metachromatic leukodystrophy indicate that migration of the transplanted Hematopoietic Stem Cells (HSCs)/their progeny into the affected human brain occurs.
com), is studying the use of laronidase (Aldurazyme) for Hurler syndrome, Scheie syndrome, and Hurler-Scheie syndrome.
He added the unit in Crumlin could also be used for less rare diseases "such as Hurler syndrome, primary immunodeficiencies and sickle cell disease".
Eight-year-old son Wyatt Blancheri has Hurler syndrome, a rare genetic disorder that progressively damages his organs and brain.
MPS I is one of the most common lysosomal storage diseases to affect the central nervous system, which in severe form can become Hurler syndrome.
Mum-of-five Michelle Rodden, 39, said she had been forced to leave her 19-year-old ADHD suffering son in her house, while moving to the council-run building with 16-year-old pregnant daughter Stacey, 14-year-old Stephanie, Leighton, nine, and seven-year-old Demi-Leigh, who suffers from Hurler syndrome.
2-5) A search of Medline from 1966 to the present with the search words Hunter, mucopolysaccharidosis, thickening, cervical, and/or cord did not yield reports of cervical cord thickening in patients with Hurler syndrome.
Hurler syndrome (OMIM 607014) (1) and Hunter disease (OMIM 309900) (2, 3), also referred to as mucopolysaccharidoses types I and II (MPSIH and MPS II), [4] are caused by deficiency of the enzymes [alpha]-L-iduronidase (EC 3.
The lysosomes in the cells of children with Hurler syndrome do not have a vital enzyme called IDUA (/a-/L-idunronidase), which causes their cells to accumulate too much of a class of biochemical known as mucopolysaccharides, in this instance dermatan sulfate and heparin sulfate.
He was diagnosed with MPS 1 - Hurler Syndrome at a few months old and doctors said it was terminal without a bone marrow transplant.