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[The nail-patella syndrome: rare genetically determined cause of proteinuria]

Miłosz Zarzecki1, Teresa Nieszporek, Jerzy Chudek

  • 1Katedra i Klinika Nefrologii, Endokrynologii i Chorób Przemiany Materii Slaskiego Uniwersytetu Medycznego w Katowicach.

Polskie Archiwum Medycyny Wewnetrznej
|July 19, 2008
PubMed

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Nephrotic Syndrome II : Assessment and Medical Management

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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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Diabetic Nephropathy

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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...