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In Vivo Proximity Biotinylation for Protein Interaction Studies in Paramecium tetraurelia

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Biotinidase deficiency.

Ramdas Dahiphale¹, Shreepal Jain, Mukesh Agrawal

¹Department of Pediatrics, Topiwala National Medical College and B.Y.L.Nair Hospital, Mumbai, India. dr_ramdas@yahoo.com

Indian Pediatrics

|September 30, 2008

Summary

This summary is machine-generated.

A rare genetic disorder, biotinidase deficiency, caused severe infant health issues including seizures and metabolic acidosis. Prompt biotin treatment resolved these critical symptoms, highlighting the importance of early diagnosis and intervention.

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Area of Science:

Biochemistry
Genetics
Pediatrics

Background:

Biotinidase deficiency is an inherited metabolic disorder affecting biotin recycling.
Early symptoms in infants can include seizures, skin rashes, and developmental delay.

Observation:

A 3-month-old infant presented with intractable seizures, dermatosis, and persistent metabolic acidosis.
These severe symptoms suggested a significant underlying metabolic or genetic condition.

Findings:

Enzyme assay confirmed the diagnosis of biotinidase deficiency.
The infant showed a remarkable clinical improvement following biotin supplementation.

Implications:

This case underscores the critical role of early diagnosis of biotinidase deficiency.
Timely biotin therapy can effectively reverse severe clinical manifestations in affected infants.
Highlights the importance of newborn screening programs for metabolic disorders.