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Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Updated: Jun 12, 2025

Analyses of Proteinuria, Renal Infiltration of Leukocytes, and Renal Deposition of Proteins in Lupus-prone MRL/lpr Mice
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Lysinuric Protein Intolerance: Not Only a Disorder for Pediatric Nephrologists - Case Report.

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Summary

Lysinuric protein intolerance (LPI) is a rare metabolic disorder. This case highlights LPI presenting as chronic kidney disease in an adult, emphasizing subtle symptoms for diagnosis.

Keywords:
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Area of Science:

  • Biochemistry
  • Genetics
  • Nephrology

Background:

  • Lysinuric protein intolerance (LPI) is a rare, multisystemic inborn error of metabolism.
  • It typically presents in childhood with growth failure and gastrointestinal/neurological issues due to urea cycle dysfunction.

Observation:

  • A 40-year-old woman with chronic kidney disease was diagnosed with LPI.
  • Her diagnosis was delayed due to subtle, non-critical symptoms including aversion to protein, drowsiness, splenomegaly, thrombocytopenia, elevated LDH, hyperferritinemia, and hypertriglyceridemia.

Findings:

  • Biochemical and genetic investigations confirmed LPI in the patient.
  • The case illustrates LPI's variable expressivity and potential for late diagnosis.

Implications:

  • Nephrologists should consider LPI in patients with unexplained chronic kidney disease, proteinuria, or tubular dysfunction.
  • Key indicators include growth failure, urea cycle impairment symptoms, hepatosplenomegaly, and specific laboratory abnormalities.