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Results 41 - 50 of 1,077 for protein
  1. Tyrosinemia 
    ... tyrosine, which is a building block of most proteins. If the condition is untreated, tyrosine and its ... expected rate (failure to thrive) because eating high-protein foods leads to diarrhea and vomiting. Affected infants ...
    https://medlineplus.gov/genetics/condition/tyrosinemia - Genetics
  2. Hyperprolinemia 
    Hyperprolinemia is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. ...
    https://medlineplus.gov/genetics/condition/hyperprolinemia - Genetics
  3. Severe congenital neutropenia 
    ... gene variants result in the production of unstable proteins that build up in neutrophils, leading to cell ... gene variants result in the production of abnormal proteins that prevent neutrophils from developing or functioning properly, ...
    https://medlineplus.gov/.../condition/severe-congenital-neutropenia - Genetics
  4. Glutaric acidemia type I 
    ... which the body is unable to process certain proteins properly. It is classified as an organic acid ... hydroxylysine, and tryptophan, which are building blocks of protein. Excessive levels of these amino acids and their ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i - Genetics
  5. Isobutyryl-CoA dehydrogenase deficiency 
    ... a condition that disrupts the breakdown of certain proteins. Normally, proteins from food are broken down into parts called ...
    https://medlineplus.gov/.../isobutyryl-coa-dehydrogenase-deficiency - Genetics
  6. Preeclampsia 
    ... they can also have abnormally high levels of protein in their urine (proteinuria). This condition usually occurs ... constricted blood vessels result in abnormal release of proteins in the urine.Researchers are studying whether variations ...
    https://medlineplus.gov/genetics/condition/preeclampsia - Genetics
  7. Mitochondrial complex I deficiency 
    ... I deficiency is a shortage (deficiency) of a protein complex called complex I or a loss of ... instructions for making components of complex I or proteins that help assemble the complex. In some cases, ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
  8. X-linked sideroblastic anemia 
    ... erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood. People with ... production of heme (a component of the hemoglobin protein) in bone marrow.ALAS2 mutations impair the activity ...
    https://medlineplus.gov/.../condition/x-linked-sideroblastic-anemia - Genetics
  9. Hyperlysinemia 
    ... amino acid lysine, a building block of most proteins. Hyperlysinemia is caused by the shortage (deficiency) of ...
    https://medlineplus.gov/genetics/condition/hyperlysinemia - Genetics
  10. Alzheimer's disease 
    ... genes is altered, large amounts of a toxic protein fragment called amyloid beta peptide are produced in ...
    https://medlineplus.gov/genetics/condition/alzheimers-disease - Genetics
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