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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]
The signs and symptoms of hypoglycemia are present (see section below on Signs and Symptoms) [2] [10] A low blood glucose measurement is present, typically less than 70 mg/dL (3.9 mmol/L) [2] The signs and symptoms of hypoglycemia resolve after blood glucose levels have returned to normal [2]
Another characteristic of GLUT1 deficiency is that symptoms are sensitive to food (e.g. symptoms that can be temporarily improved by intake of carbohydrates), and symptoms may be worse in the morning upon and just after waking. [5] All symptoms may be aggravated or triggered by factors such as hunger, fatigue, heat, anxiety, and sickness.
Cortisol is a glucocorticoid that plays a variety of roles in many different biochemical pathways, including, but not limited to: gluconeogenesis, suppressing immune system responses and carbohydrate metabolism. One of the symptoms of cortisone reductase deficiency is hyperandrogenism, resulting from activation of the Hypothalamic–pituitary ...
Mannose supplementation relieves the symptoms in MPI-CDG for the most part, [39] even though the hepatic fibrosis may persist. [40] Fucose supplementation has had a partial effect on some SLC35C1-CDG patients. [41] In 2024, it was reported that a study suggested that Ibuprofen might be helpful as a treatment for one such genetic disease. [42]
Hypoglycorrhachia is associated with Glucose transporter type 1 GLUT1 deficiency syndrome (De Vivo disease). [ 7 ] Perhaps a much more common example of the same phenomenon occurs in the people with poorly controlled type 1 diabetes who develop symptoms of hypoglycemia at levels of blood glucose which are normal for most people.
Severe forms may have continual pain from general life activity. The adult form has a variable age of onset. The first appearance of symptoms usually occurs between 6 and 20 years of age but has been documented in patients as young as 8 months as well as in adults over the age of 50. Roughly 80% cases reported to date have been male. [citation ...
Glycogen storage disease type III; Other names: Cori Disease, Debrancher Deficiency, Forbes Disease [1] Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H&E stain. Specialty: Endocrinology Symptoms: Hypotonia [2] Causes: AGL gene mutation [3] Diagnostic method: Biopsy, Elevated ...