Name of the Condition

• Common name(s): Biotin-dependent carboxylase deficiency
• ICD code: D81.819

Summary

Biotin-dependent carboxylase deficiency is a rare metabolic disorder where the body is unable to effectively utilize biotin, an essential vitamin, leading to issues with energy production and metabolism.

Causes

• Genetic mutation in the biotinidase enzyme
• Inherited in an autosomal recessive pattern

Risk Factors

• Family history of the condition
• Being born to parents carrying the genetic mutation

Symptoms

• Developmental delay
• Neurological issues such as seizures
• Symptoms of metabolic imbalance like lactic acidosis
• Skin issues, including rashes and alopecia (hair loss)

Diagnosis

• Blood tests showing metabolic imbalance
• Genetic testing confirming mutations
• Enzyme activity assays to assess biotinidase levels

Treatment Options

• Biotin supplementation: High doses can help manage symptoms effectively
• Dietary adjustments: Ensuring adequate nutrition to support overall health

Prognosis and Follow-Up

• With early and ongoing treatment, many symptoms can improve or stabilize.
• Regular follow-ups to monitor biochemical markers and adjust biotin dosages as necessary.

Complications

• Potential for severe neurological damage if left untreated
• Possible developmental disabilities

Lifestyle & Prevention

• Genetic counseling for families with a history of the condition
• Prenatal screening for at-risk pregnancies

When to Seek Professional Help

• Onset of neurological symptoms such as seizures
• Developmental delays in infants or children
• Unexplained skin or metabolic issues

Additional Resources

• Genetic and Rare Diseases Information Center (GARD)
• National Organization for Rare Disorders (NORD)

Tips for Medical Coders

• Ensure clarity by noting the unspecified subtype, as there are multiple types of carboxylase deficiency.
• Avoid confusion with other metabolic disorders involving biotin.

This markdown-styled guide aims to provide a comprehensive overview of biotin-dependent carboxylase deficiency, focusing on its medical, diagnostic, and treatment aspects.