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Some people with a metabolic myopathy never develop symptoms due to the body's ability to produce enough ATP through alternative pathways (e.g. the majority of those with AMP-deaminase deficiency are asymptomatic [1] [21]). H 2 O + ATP → H + + ADP + P i + energy → muscle contraction [22] ATP is needed for muscle contraction by two processes:
Treatment for glycogen storage disease type III may involve a high-protein diet, to facilitate gluconeogenesis. Additionally the individual may need: [2] [1] [10] IV glucose (if oral route is inadvisable) Nutritional specialist; Vitamin D (for osteoporosis/secondary complication) Hepatic transplant (if a complication occurs)
The symptoms of an episode of diabetic ketoacidosis usually evolve over a period of about 24 hours. Predominant symptoms are nausea and vomiting, pronounced thirst, excessive urine production and abdominal pain that may be severe. [13] [14] In severe DKA, breathing becomes rapid and of a deep, gasping character, called "Kussmaul breathing".
Glycogen storage disease type V (GSD5, GSD-V), [1] also known as McArdle's disease, [2] is a metabolic disorder, one of the metabolic myopathies, more specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase.
Maternally inherited diabetes mellitus and deafness (MIDD) [4] While diabetes mellitus and deafness can be found together for other reasons, at an early age this combination can be due to mitochondrial disease, as may occur in Kearns–Sayre syndrome and Pearson syndrome [2] Leber's hereditary optic neuropathy (LHON) [3]
2% (people in hospital) [1] Hypophosphatemia is an electrolyte disorder in which there is a low level of phosphate in the blood . [ 1 ] Symptoms may include weakness, trouble breathing, and loss of appetite. [ 1 ]
This can result in a variety of symptoms, many of which are severe and can affect the skeleton, brain, skin, heart, and the central nervous system. [8] Increasing the concentration of the missing enzyme within the body has been shown to improve the body's normal cellular metabolic processes and reduce substrate concentration in the body.
Among people with diabetes, prevention starts with learning the signs and symptoms of hypoglycemia. [3] [2] Diabetes medications, like insulin, sulfonylureas, and biguanides can also be adjusted or stopped to prevent hypoglycemia. [3] [2] Frequent and routine blood glucose testing is recommended.