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Zellweger spectrum disorders are a group of autosomal recessive genetic disorders. They are caused due to pathogenic mutations in at least 13 different PEX genes that encode peroxins. [5] It affects the peroxisomes, which are organelles in the body that are meant to breakdown items like acids and toxic compounds. Both parents will have to have ...
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 .
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.
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.
Mutations in the genes encoding PEX1, along with PEX6, are the leading causes of peroxisomal biogenesis disorders, [9] such as Zellweger Syndrome spectrum, infantile Refsum disease, and neonatal adrenoleukodystrophy. These genetic diseases are autosomal recessive and occur in 1 of every 50,000 births. [10]
Diseases and disorders ZAP-70 deficiency Zeta-associated-protein 70 deficiency ZBLS Zadik–Barak–Levin syndrome: ZES Zollinger–Ellison syndrome: ZLS Zimmermann–Laband syndrome: ZS Zellweger syndrome: ZSD Zellweger spectrum disorders: ZSS Zellweger syndrome spectrum ZTTK syndrome Zhu–Tokita–Takenouchi–Kim syndrome
As an X-linked disorder, ALD presents most commonly in males; however, approximately 50% of heterozygote females show some symptoms later in life. Approximately two-thirds of ALD patients will present with the childhood cerebral form of the disease, which is the most severe form.
A mood disorder spectrum [31] or bipolar spectrum [2] or depressive spectrum. [32] These approaches have expanded out in different directions. On the one hand, work on major depressive disorder has identified a spectrum of subcategories and sub-threshold symptoms that are prevalent, recurrent and associated with treatment needs. People are ...