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 ?
M2 PHARMA-December 6, 2017-ArmaGen Secures Fast Track Designation for Treatment of Hurler Syndrome
M2 EQUITYBITES-December 1, 2017-ArmaGen awarded US FDA's Fast Track Designation for AGT-181 for Hurler Syndrome
The main histologic differential diagnoses are other nephropathies with foamy podocytes, such as lysosomal inhibitor toxicity and other renal lipidoses (GM1 gangliosidosis, I-cell disease, Hurler syndrome, Niemann-Pick disease, Farber disease, and infantile nephrosialidosis).
Just days before her first birthday, medics diagnosed her with MPS1, also known as Hurler syndrome.
One case had Hurler syndrome which is a mucopolysaccharidosis and generally seen with umbilical hernias.
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.
IN OCTOBER 2012, 41-year-old Joselyn Taruc finally learned that her 2-year-old daughter Queen Zina is afflicted with Hurler Syndrome, a rare and progressive genetic disorder that causes her to develop a large head, dark skin, coarse facial features (bulging forehead, depressed nasal bridge, broad mouth, square jaw), short neck, enlarged abdomen, clawed hands, crouched stance and to suffer from vision impairment, hearing loss and stunted growth.
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".
Medial hemiepiphysiodesis has been shown to be quite successful in children with Hurler syndrome (MPS IH) after hematopoietic stem cell transplant.
Eight-year-old son Wyatt Blancheri has Hurler syndrome, a rare genetic disorder that progressively damages his organs and brain.