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Partial biotinidase deficiency: clinical and biochemical features
J R McVoy1, H L Levy, M Lawler
1Department of Human Genetics, Medical College of Virginia, Richmond 23298-0033.
The Journal of Pediatrics
|January 1, 1990
Summary
Partial biotinidase deficiency, identified through newborn screening, can lead to symptoms like hair loss and skin rash. Early biotin treatment may prevent these consequences in individuals with partial biotinidase deficiency.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Neonatal screening identifies profound biotinidase deficiency.
- Partial biotinidase deficiency (10-30% activity) is also detected.
- Potential clinical consequences of partial deficiency warrant investigation.
Purpose of the Study:
- Determine if partial biotinidase deficiency is associated with symptoms.
- Investigate the inheritance pattern of partial biotinidase deficiency.
Main Methods:
- Quantified serum biotinidase activity.
- Collected medical histories from probands and family members.
- Included infants, children, and adults.
Main Results:
- All initially diagnosed children with partial deficiency were healthy.
- One untreated child developed symptoms (hypotonia, hair loss, rash) that resolved with biotin.
- Family members and adult volunteers with partial deficiency were mostly healthy, with one showing elevated urinary lactate.
- One adult with partial deficiency developed minor symptoms that resolved with biotin therapy.
Conclusions:
- Individuals with partial biotinidase deficiency are asymptomatic at birth.
- Subsequent symptoms similar to profound deficiency can occur.
- Biotin therapy may be beneficial for individuals with partial biotinidase deficiency to prevent symptom onset.