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Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. [1] It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies .
Zellweger spectrum disorders are a group of rare disorders that create the same disease process. [1] The subdivisions of this spectrum are hyperpipecolic acidemia , infantile Refsum disease , neonatal adrenoleukodystrophy , and Zellweger syndrome .
Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). [4] [5] PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome.
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.
Infantile Refsum disease (IRD) is a rare autosomal recessive [2] congenital peroxisomal biogenesis disorder within the Zellweger spectrum.These are disorders of the peroxisomes that are clinically similar to Zellweger syndrome and associated with mutations in the PEX family of genes.
Like many autoimmune diseases, SPS exists on a spectrum and, as a result, symptoms can look quite different in different people, Dr. Scott Newsome, head of the Johns Hopkins Stiff Person Syndrome ...
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NBC has unveiled the first photos and trailer from upcoming true crime drama “The Thing About Pam,” and with it comes an official first look at Renée Zellweger’s shocking transformation ...