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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]
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]
Carnitine palmitoyltransferase II deficiency, sometimes shortened to CPT-II or CPT2, is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source. The disorder presents in one of three ...
Signs and symptoms of this disorder include low levels of ketones (hypoketosis) and low blood sugar (hypoglycemia). Together these signs are called hypoketotic hypoglycemia. People with this disorder typically also have an enlarged liver (hepatomegaly), muscle weakness, and elevated levels of carnitine in the blood. [2]
Behavioral symptoms affect relations with other people and may include short attention span, intractability, and delays in achieving age-appropriate behaviors. Sociability with peers, however, is a strength in GLUT1 deficiency patients. [5] Movement symptoms relate to the quality of motor functions. Walking may be delayed or difficult because ...
Upon recognizing the signs and symptoms of hypoglycemia in a diabetic, a blood sugar level should first be measured using a glucose meter. [1] If blood glucose is below 70 mg/dL (3.9 mmol/L), treatment will depend on whether the person is conscious and can swallow safely.
Citrin deficiency (CD) is an inherited autosomal recessive metabolic condition and a urea cycle disorder. Citrin deficiency is a complex disorder with several age-dependent phenotypes. A hallmark symptom of citrin deficiency is a strong dietary preference for foods rich in protein and fat, while being low in carbohydrates.
The two organs most commonly affected are the liver and the skeletal muscle. Glycogen storage diseases that affect the liver typically cause hepatomegaly and hypoglycemia; those that affect skeletal muscle cause exercise intolerance, progressive weakness and cramping. [1] Glucose-6-phosphate isomerase deficiency affects step 2 of glycolysis.