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  2. Inborn errors of carbohydrate metabolism - Wikipedia

    en.wikipedia.org/wiki/Inborn_errors_of...

    Lactose is a disaccharide sugar composed of galactose and glucose that is found in milk. Lactose can not be absorbed by the intestine and needs to be split in the small intestine into galactose and glucose by the enzyme called lactase; unabsorbed lactose can cause abdominal pain, bloating, diarrhea, gas, and nausea.

  3. GLUT1 deficiency - Wikipedia

    en.wikipedia.org/wiki/GLUT1_deficiency

    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 ...

  4. Inborn errors of metabolism - Wikipedia

    en.wikipedia.org/wiki/Inborn_errors_of_metabolism

    Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.

  5. Galactose-1-phosphate uridylyltransferase deficiency - Wikipedia

    en.wikipedia.org/wiki/Galactose-1-phosphate_urid...

    The accumulation of galactitol and subsequent osmotic swelling can lead to cataracts which are similar to those seen in galactokinase deficiency. [2] Long-term consequences of continued galactose intake can include developmental delay, developmental verbal dyspraxia, and motor abnormalities. Galactosemic females frequently suffer from ovarian ...

  6. Ketotic hypoglycemia - Wikipedia

    en.wikipedia.org/wiki/Ketotic_hypoglycemia

    Common symptoms of ketosis are anorexia, abdominal discomfort, and nausea, sometimes progressing to vomiting. [7] However, the diagnosis of ketotic hypoglycemia poses a challenge to clinicians, given how nonspecific symptoms can be and given that children in this age range are typically unable to describe their symptoms. [2]

  7. Galactosemia - Wikipedia

    en.wikipedia.org/wiki/Galactosemia

    A galactosemia test is a blood test (from the heel of the infant) or urine test that checks for three enzymes that are needed to change galactose sugar that is found in milk and milk products into glucose, a sugar that the human body uses for energy. A person with galactosemia does not have one of these enzymes.

  8. Reactive hypoglycemia - Wikipedia

    en.wikipedia.org/wiki/Reactive_hypoglycemia

    Consistently choosing longer lasting, complex carbohydrates to prevent rapid blood-sugar dips in the event that one does consume a disproportionately large amount of carbohydrates with a meal; Monitoring any effects medication may have on symptoms. [4] Low-carbohydrate diet and/or frequent small meals is the first treatment of this condition ...

  9. Carbohydrate metabolism - Wikipedia

    en.wikipedia.org/wiki/Carbohydrate_metabolism

    Carbohydrate metabolism is the whole of the biochemical processes responsible for the metabolic formation, breakdown, and interconversion of carbohydrates in living organisms. Carbohydrates are central to many essential metabolic pathways . [ 1 ]