Symptoms may include abnormally diminished muscle tone (hypotonia), poor feeding, vomiting, lethargy and seizures. If left untreated, organic acidemias may progress to coma and life-threatening complications. These disorders are of a genetic origin and affect the urea cycle as a secondary phenomenon.
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Mar 1, 2020 ˇ Some babies with this disorder experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria ...
poor feeding or loss of appetite ˇ lack of energy ˇ abnormal movements ˇ vomiting ˇ irritability ˇ breathing difficulties.
Sep 17, 2019 ˇ Most often, GAll first appears in infancy or early childhood as a sudden episode of a metabolic crisis, that can cause weakness, behavior ...
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Signs and symptoms of 3-Hydroxyisobutyric aciduria include developmental delay, characteristic facial features and brain abnormalities. The exact underlying ...
The chronic, intermittent form of aciduria can manifest later in life, up to adulthood, with recurrent episodes of ketoacidotic coma, lethargy and ataxia, focal ...
Aug 1, 2013 ˇ Additional features of L-2-HGA can include delayed development, seizures, speech difficulties, and an unusually large head (macrocephaly ).
Oct 20, 2023 ˇ Glutaric aciduria type 1 (GA1) is an inherited metabolic disorder. It results from an enzyme deficiency that prevents the body from breaking ...
Neurologic symptoms in these three classical organic acidurias can range from hypotonia and abnormal movements (boxing or paddling motions) to lethargy, ...
