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  2. Glutaric aciduria type 1 - Wikipedia

    en.wikipedia.org/wiki/Glutaric_aciduria_type_1

    Glutaric acidemia type 1 (GA1) is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan.Excessive levels of their intermediate breakdown products (glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid, glutaconic acid) can accumulate and cause damage to the brain (and also other organs [1]), but particularly the basal ...

  3. Ketogenic diet - Wikipedia

    en.wikipedia.org/wiki/Ketogenic_diet

    KetoCal is a nutritionally complete food containing milk protein and is supplemented with amino acids, fat, carbohydrate, vitamins, minerals and trace elements. It is used to administer the 4:1 ratio classic ketogenic diet in children over one year.

  4. Medium-chain acyl-coenzyme A dehydrogenase deficiency

    en.wikipedia.org/wiki/Medium-chain_acyl-coenzyme...

    Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency or MCADD) is a disorder of fatty acid oxidation that impairs the body's ability to break down medium-chain fatty acids into acetyl-CoA. The disorder is characterized by hypoglycemia and sudden death without timely intervention, most often brought on by periods of fasting or vomiting.

  5. Maple syrup urine disease - Wikipedia

    en.wikipedia.org/wiki/Maple_syrup_urine_disease

    Maple syrup urine disease can be classified by its pattern of signs and symptoms or by its genetic cause. The most common and severe form of this disease is the classic type, which appears soon after birth, and as long as it remains untreated, gives rise to progressive and unremitting symptoms.

  6. Sodium phenylbutyrate - Wikipedia

    en.wikipedia.org/wiki/Sodium_phenylbutyrate

    Sodium phenylbutyrate is taken orally or by nasogastric intubation as a tablet or powder, and tastes very salty and bitter. It treats urea cycle disorders, genetic diseases in which nitrogen waste builds up in the blood plasma as ammonia glutamine (a state called hyperammonemia) due to deficiences in the enzymes carbamoyl phosphate synthetase I, ornithine transcarbamylase, or argininosuccinic ...

  7. Methylmalonic acidemias - Wikipedia

    en.wikipedia.org/wiki/Methylmalonic_acidemias

    Typically, the parameter methylmalonic acid is only tested if propionylcarnitine was previously elevated. [48] Because of the inability to properly break down amino acids completely, the byproduct of protein digestion, the compound methylmalonic acid, is found in a disproportionate concentration in the blood and urine of those afflicted.