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PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disease that is the most common type of congenital disorder of glycosylation or CDG. [2] PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. [3]
Since 2009, most researchers use a different nomenclature based on the gene defect (e.g. CDG-Ia = PMM2-CDG, CDG-Ib = PMI-CDG, CDG-Ic = ALG6-CDG etc.). [33] The reason for the new nomenclature was the fact that proteins not directly involved in glycan synthesis (such as members of the COG-family [ 34 ] and vesicular H+-ATPase) [ 35 ] were found ...
5373 54128 Ensembl n/a ENSMUSG00000022711 UniProt O15305 Q9Z2M7 RefSeq (mRNA) NM_000303 NM_016881 NM_001362485 RefSeq (protein) NP_000294 NP_058577 NP_001349414 Location (UCSC) n/a Chr 16: 8.46 – 8.48 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene. Function Phosphomannomutase 2 catalyzes the isomerization ...
Hypertension, also known as high blood pressure, is a long-term medical condition in which the blood pressure in the arteries is persistently elevated. [11] High blood pressure usually does not cause symptoms itself. [ 1 ]
A diagram explaining factors affecting arterial pressure. Pathophysiology is a study which explains the function of the body as it relates to diseases and conditions. The pathophysiology of hypertension is an area which attempts to explain mechanistically the causes of hypertension, which is a chronic disease characterized by elevation of blood pressure.
For most people, recommendations are to reduce blood pressure to less than or equal to somewhere between 140/90 mmHg and 160/100 mmHg. [2] In general, for people with elevated blood pressure, attempting to achieve lower levels of blood pressure than the recommended 140/90 mmHg will create more harm than benefits, [3] in particular for older people. [4]
The health care provider usually takes 2–3 readings at several medical appointments to diagnose high blood pressure. [40] Using the results of the blood pressure test, the health care provider will diagnose prehypertension or high blood pressure if: For an adult, systolic or diastolic readings are consistently higher than 120/80 mmHg.
The high blood pressure is gradual at early stages and may take at least 10–15 years to fully develop. Besides diabetes, other factors that may also increase high blood pressure include obesity, insulin resistance and high cholesterol levels. In general, fewer than 25 percent of diabetics have good control of their blood pressure.