Inozyme is developing INZ-701 for certain rare, life-threatening and devastating genetic disorders such as ENPP1 Deficiency (GACI and ARHR2) and pseudoxanthoma
elasticum in which PPi levels are below the normal physiological levels.
Thalassemic syndromes Heterozygous beta thalassemia Other hemoglobinopathies Artifact in the presence of Hb S Some Hb variants with thalassemic phenotype Acquired conditions Megaloblastic anemia Hyperthyroidism Pseudoxanthoma
elasticum Hypertrophic osteoarthropathy Treatment-related conditions Antiretroviral therapy in patients with HIV
Abel, "Perforating pseudoxanthoma
elasticum associated with chronic renal failure and hemodialysis," JAMA Dermatology, vol.
Falcao-Reis, "Acute transient myopia with shallowing of the anterior chamber induced by sulfamethoxazole in a patient with pseudoxanthoma
elasticum," Journal of Glaucoma, vol.
--inherited constitutional vascular wall changes, in connective tissue disorders, such as type 2 Ehlers-Danlos syndrome, Marfan syndrome, pseudoxanthoma
Therefore, ABCC6 gene is considered responsible for elastic pseudoxanthoma
,[sup] a disease with the aforementioned characteristics, in addition to dystrophic calcinosis, which refers to calcium deposits in necrotic and inflamed spots.[sup] A molecular link between elastic pseudoxanthoma
and vascular calcification is established on the clinical and histological similarities between the two, suggesting that they both arise through mutations in ABCC6 , which affect the pyrophosphate pathway [sup] and reduce MGP gamma-carboxylation.[sup]
Scheffer et al., "Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma
elasticum," Human Molecular Genetics, vol.
elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter," Proceedings of the National Academy of Sciences of the United States of America, vol.
There are numerous systemic associations with AS, including pseudoxanthoma
elasticum (PXE; OMIM #264800), Paget's disease of bone, sickle cell anemia, and Ehlers-Danlos syndrome .
elasticum is a rare autosomal recessive skin disease with a slight female preponderance and often presents a therapeutic challenge due to additional risk to eyes and cardiovascular system.
10-20% of direct fistula may be spontaneous due to rupture of aneurysm of cavernous part of ICA or weakening of the vessel wall as in Ehlers-Danlos syndrome or pseudoxanthoma
Some of the associated conditions can be remembered with the mnemonic MADPPORES: Marfan syndrome, Acrogeria, Down syndrome, Penicillamine, Pseudoxanthoma
elasticum, Osteogenesis imperfecta, Rothmund-Thomson syndrome, Ehlers-Danlos (some forms), and Scleroderma.