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[Phenotypic and molecular characterization of a Colombian family with phenylketonuria]

Nancy Gélvez1, Johana Acosta, Greizy López

  • 1Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, D.C., Colombia. nancy.gelvez@javeriana.edu.co.

Biomedica : Revista Del Instituto Nacional De Salud
|November 22, 2016
PubMed

Insights

Early diagnosis of phenylketonuria (PKU) is crucial for preventing severe neurological and behavioral issues. This study characterized a Colombian family with PKU, identifying a specific mutation and highlighting clinical variability.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Phenylketonuria (PKU) is a metabolic disorder causing severe neurological and behavioral problems.
  • Early diagnosis and treatment of PKU are essential to prevent long-term sequelae and improve prognosis.
  • Consanguineous families may have a higher incidence of inherited metabolic disorders like PKU.

Purpose of the Study:

  • To conduct a comprehensive clinical, biochemical, and molecular characterization of a Colombian family with phenylketonuria.
  • To identify the specific genetic mutation responsible for PKU in the affected family members.
  • To investigate the genotype-phenotype correlation and understand clinical variability in PKU patients within the family.

Main Methods:

  • Involved seven individuals from a consanguineous family with four children exhibiting PKU symptoms.
  • Utilized colorimetric tests, high-performance liquid chromatography (HPLC), and thin-layer chromatography (TLC) on blood and urine samples.
  • Performed DNA extraction and sequencing of all 13 exons of the Phenylalanine Hydroxylase (PAH) gene, with primer design and sequence analysis using specialized software.

Main Results:

  • Described the clinical and molecular profile of the Colombian PKU family.
  • Confirmed the presence of the specific mutation c.398_401delATCA in affected individuals.
  • Observed significant clinical variability among patients despite sharing the identical PAH gene mutation, indicating complex genotype-phenotype interactions.

Conclusions:

  • Early recognition and management of phenylketonuria are critical for preventing devastating neurological and psychological consequences.
  • Delayed diagnosis can lead to patients reaching adulthood without proper care, resulting in irreversible sequelae.
  • Understanding the genetic basis and clinical presentation of PKU in diverse populations is vital for effective public health strategies.
Abstract

Keywords:
Phenylketonuriasdietearly diagnosisgeneticsintellectual disabilitymutationphenylalanine hydroxylase

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