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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: Dec 28, 2025

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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[Gitelman syndrome].

Catalina M Ungaro1,2, M Silvina Odstrcil-Bobillo1, Paula M Russo1,2

  • 1Departamento de Medicina Interna, Hospital Italiano de Buenos Aires, Argentina.

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|February 12, 2020
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Summary
This summary is machine-generated.

Gitelman syndrome, a salt-losing tubulopathy, often presents with biochemical changes like low potassium and magnesium. Early diagnosis is crucial due to potential critical electrolyte imbalances.

Keywords:
Gitelman syndromehypokalemiahypomagnesemia

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Area of Science:

  • Nephrology
  • Genetics
  • Internal Medicine

Background:

  • Gitelman syndrome is a genetic disorder affecting the distal convoluted tubule, leading to salt loss.
  • It is characterized by hypokalemia and hypomagnesemia.
  • Understanding its presentation is key for timely diagnosis and management.

Observation:

  • A case series of five patients diagnosed with Gitelman syndrome between 2004 and 2015 was analyzed.
  • The study included four women aged 28 to 85 years.
  • Diagnosis was primarily based on laboratory findings.

Findings:

  • The most common presenting symptom was malaise.
  • Mean serum potassium (potassemia) was 2.5 ± 0.5 mmol/l (minimum 2.1 mmol/l).
  • Mean serum magnesium was 1.3 ± 0.3 mg/dl.

Implications:

  • Gitelman syndrome often manifests with biochemical alterations and nonspecific symptoms, posing diagnostic challenges.
  • Timely diagnosis is essential, particularly in young patients with severe hypokalemia.
  • Prompt identification aids in preventing complications associated with electrolyte imbalances.