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Related Experiment Videos

Delayed-onset profound biotinidase deficiency

B Wolf1, R J Pomponio, K J Norrgard

  • 1Department of Human Genetics, Medical College of Virginia/Virginia Commonwealth University, Richmond 23298, USA.

The Journal of Pediatrics
|March 20, 1998
PubMed
Summary
This summary is machine-generated.

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Biotinidase deficiency can manifest later in childhood or adolescence with limb weakness and vision issues. This rare genetic disorder requires consideration in older children presenting with these neurological and ophthalmological symptoms.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Biotinidase deficiency typically presents in infancy or early childhood.
  • Characteristic symptoms include developmental delay, seizures, and skin rashes.
  • Late-onset presentations are less common but documented.

Purpose of the Study:

  • To describe late-onset biotinidase deficiency in older children and adolescents.
  • To highlight atypical clinical manifestations in this patient group.
  • To emphasize the importance of considering biotinidase deficiency in the differential diagnosis of later-onset neurological and visual symptoms.

Main Methods:

  • Case series describing four patients with late-onset biotinidase deficiency.
  • Clinical evaluation including neurological and ophthalmological examinations.

Related Experiment Videos

  • Genetic analysis to identify mutations in the BTD gene.

    • Main Results:

    • Four patients presented with symptoms in late childhood or adolescence.
    • Common symptoms included motor limb weakness, spastic paresis, and ocular abnormalities (visual acuity loss, scotomata).
    • Identical mutations were found in these patients as in early-onset cases, suggesting variable expressivity.

    Conclusions:

    • Biotinidase deficiency should be considered in the differential diagnosis of older children and adolescents with unexplained limb weakness, spasticity, or eye problems.
    • Late-onset presentations can mimic other neurological disorders.
    • Genetic analysis is crucial for confirming the diagnosis regardless of symptom onset age.