by Peter Ciszewski | May 4, 2020
Cystinuria is an inherited autosomal recessive metabolic disorder that is characterized by the formation of cystine stones in the kidneys, ureter, and bladder. It is a rare, lifelong condition in which too much of a certain amino acid, called cystine, builds up in the...
by Peter Ciszewski | May 2, 2020
Overview Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders (PBD) caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into three clinical...
by Peter Ciszewski | May 1, 2020
Sarah Beaussant-Cohen, MD, pediatric hematology-oncologist and clinical immunologist with a post doc in immunology, discusses gene testing and WHIM syndrome. WHIM syndrome is a rare, autosomal dominant combined primary immunodeficiency predominantly caused by...
by Peter Ciszewski | Apr 30, 2020
Inclusion body myositis (IBM) is a progressive muscle disorder characterized by muscle inflammation, weakness, and atrophy (wasting). It is a type of inflammatory myopathy. IBM develops in adulthood, usually after age 50. The symptoms and rate of progression vary from...
by Peter Ciszewski | Apr 30, 2020
Ozlem Goker-Alpan, MD, founder of the Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) in Fairfax, VA provides an overview of Fabry disease. Fabry disease an X-linked genetic disorder that leads to the buildup of globotriaosylceramide in...
