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There are several different forms of glycine encephalopathy, which can be distinguished by the age of onset, as well as the types and severity of symptoms. All forms of glycine encephalopathy present with only neurological symptoms, including intellectual disability (IQ scores below 20 are common [5]), hypotonia, apneic seizures, and brain ...
Although no treatment options have been proven to help manage 3-Methylcrotonyl-CoA carboxylase deficiency [9] proposed treatments include L-carnitine supplements, [10] glycine administration, [11] biotin supplements [4] and dietary restriction of leucine.
The three main signs of hyperekplexia are generalized stiffness, excessive startle response beginning at birth, and nocturnal myoclonus. [5] Affected individuals are fully conscious during episodes of stiffness, which consist of forced closure of the eyes and an extension of the extremities followed by a period of generalised stiffness and uncontrolled falling at times. [6]
In mature adults, glycine is a inhibitory neurotransmitter found in the spinal cord and regions of the brain. [15] As it binds to a glycine receptor, a conformational change is induced, and the channel created by the receptor opens. [17] As the channel opens, chloride ions are able to flow into the cell which results in hyperpolarization.
Symptom severity appears to be dose-dependent (higher doses cause more severe symptoms) [24] and the duration of supplementation with vitamin B 6 before the onset of systems appears to be inversely proportional to the amount taken daily (the smaller the daily dosage, the longer it will take for symptoms to develop).
Treatment options for protein toxicity can include renal replacement therapies like hemodialysis and hemofiltration. [25] Lifestyle modifications like a diet low in protein, decreased sodium intake, and exercise can also be in incorporated as part of a treatment plan. Medications may also be prescribed depending on symptoms.
It is a hypersensitivity to ingesting compounds in soy (Glycine max), causing an overreaction of the immune system, typically with physical symptoms, such as gastrointestinal discomfort, respiratory distress, or a skin reaction. [2] [3] Soy is among the eight most common foods inducing allergic reactions in children and adults. [1]
The onset of symptoms is 10 to 120 minutes after ingestion. [26] Symptoms include seizures, a "sawhorse" stance, and opisthotonus (rigid extension of all four limbs). Death is usually secondary to respiratory paralysis. Treatment is by detoxification using activated charcoal, pentobarbital for the symptoms, and artificial respiration for apnea.