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  2. Organic acidemia - Wikipedia

    en.wikipedia.org/wiki/Organic_acidemia

    Most of the organic acidemias result from defective autosomal genes for various enzymes important to amino acid metabolism.Neurological and physiological harm is caused by this impaired ability to synthesize a key enzyme required to break down a specific amino acid, or group of amino acids, resulting in acidemia and toxicity to specific organs systems.

  3. Low-protein diet - Wikipedia

    en.wikipedia.org/wiki/Low-protein_diet

    For adults, the recommended minimum amounts of each essential amino acid varies from 4 to 39 milligrams per kilogram of body weight per day. To be of good quality, protein only needs to come from a wide variety of foods; there is neither a need to mix animal and plant food together nor a need to complement specific plant foods, such as rice and ...

  4. Lysinuric protein intolerance - Wikipedia

    en.wikipedia.org/wiki/Lysinuric_protein_intolerance

    The diagnosis is based on the biochemical findings (increased concentrations of lysine, arginine and ornithine in urine and low concentrations of these amino acids in plasma, elevation of urinary orotic acid excretion after protein-rich meals, and inappropriately high concentrations of serum ferritin and lactate dehydrogenase isoenzymes) and ...

  5. Methylmalonic acidemias - Wikipedia

    en.wikipedia.org/wiki/Methylmalonic_acidemias

    Methylmalonic acidemia has an autosomal recessive pattern of inheritance.. Methylmalonic acidemias have an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene—one from each parent—must be inherited to be affected by the disorder.

  6. Hypoalbuminemia - Wikipedia

    en.wikipedia.org/wiki/Hypoalbuminemia

    A girl with the physical signs and symptoms of Kwashiorkor, which is an extreme form of malnutrition-associated hypoalbuminemia. Kwashiorkor is a disease of malnutrition characterized by decreased protein intake and amino acid deficiency resulting in hypoalbuminemia and a characteristic physical presentation.

  7. Biotinidase deficiency - Wikipedia

    en.wikipedia.org/wiki/Biotinidase_deficiency

    Symptoms of the deficiency are caused by the inability to reuse biotin molecules that are needed for cell growth, production of fatty acids and the metabolism of fats and amino acids. If left untreated, the symptoms can lead to later problems such as comas or death.

  8. Combined malonic and methylmalonic aciduria - Wikipedia

    en.wikipedia.org/wiki/Combined_malonic_and...

    The deficiency of ACSF3 in CMAMMA leads to an accumulation of malonic acid and a mitochondrial deficiency of malonyl-CoA. [12] While malonic acid competitively inhibits complex II and has a cytotoxic effect, the deficiency of the substrate malonyl-CoA in turn leads to reduced malonylation of mitochondrial proteins, which affects the activity of ...

  9. Vitamin deficiency - Wikipedia

    en.wikipedia.org/wiki/Vitamin_deficiency

    Niacin deficiency is a consequence of a diet low in both niacin and the amino acid tryptophan, a precursor for the vitamin. Low plasma tryptophan is a non-specific indicator, meaning it can have other causes. The signs and symptoms of niacin deficiency start to revert within days of oral supplementation with large amounts of the vitamin. [23] [24]

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