D81.818 Other biotin-dependent carboxylase deficiency

ICD10CM code

#### Name of the Condition
- Other Biotin-Dependent Carboxylase Deficiency
- Often referred to as multiple carboxylase deficiency or biotinidase deficiency.

#### Summary
Other biotin-dependent carboxylase deficiency is a rare inherited disorder that disrupts the normal metabolism of fats, proteins, and carbohydrates. This condition is caused by a deficiency of one or more enzymes that depend on biotin—a vital B-vitamin.

#### Causes
This condition is primarily caused by genetic mutations affecting the function of enzymes such as biotinidase or holocarboxylase synthetase, leading to inadequate utilization of biotin in the body.

#### Risk Factors
- Genetic predisposition, typically autosomal recessive inheritance.
- Family history of biotinidase or holocarboxylase synthetase deficiencies.

#### Symptoms
- Developmental delay
- Hypotonia (decreased muscle tone)
- Seizures
- Skin rash
- Hair loss (alopecia)

#### Diagnosis
- Blood tests measuring enzyme activity levels
- Genetic testing to confirm mutations
- Newborn screening programs in many regions 

#### Treatment Options
- High-dose biotin supplementation to replenish biotin levels
- Early treatment can prevent symptoms and improve overall outcomes

#### Prognosis and Follow-Up
- With early diagnosis and treatment, individuals often lead healthy lives, but ongoing biotin supplementation is typically necessary.
- Regular follow-up with healthcare professionals to monitor treatment efficacy and adjust dosage as needed.

#### Complications
- If untreated, the condition can lead to severe metabolic crises, neurological damage, or death.

#### Lifestyle & Prevention
- There are no known preventive measures due to its genetic nature, but early detection through newborn screening is crucial.
- Maintaining compliance with biotin supplementation is key to managing symptoms.

#### When to Seek Professional Help
- If a child presents with unusual symptoms such as seizures, skin rash, or developmental delays, seek medical attention for potential metabolic disorders.

#### Additional Resources
- Genetic and Rare Diseases Information Center (GARD)
- The National Organization for Rare Disorders (NORD)
- Biotinidase Deficiency Family Support Group

#### Tips for Medical Coders
- Ensure accurate documentation of enzyme deficiencies or genetic mutations.
- Verify genetic test results or newborn screening documentation when coding.
- Avoid confusing with similar enzyme-deficiency conditions; carefully differentiate based on biochemical findings.

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