D81.818
Other biotin-dependent carboxylase deficiency
Clinical Classification Guidelines
Inclusion Terms
- Holocarboxylase synthetase deficiency
- Other multiple carboxylase deficiency
Medical Intelligence & Overview
Other biotin-dependent carboxylase deficiency, classified under ICD-10 code D81.818, is a rare genetic disorder that affects the body's ability to produce essential enzymes needed for healthy metabolism. These enzymes, known as carboxylases, require biotin (vitamin B7) to function properly. Without adequate enzyme activity, certain biochemical reactions necessary for converting nutrients into energy are disrupted, leading to a spectrum of health issues. This condition is often linked to deficiencies in multiple biotin-dependent enzymes, including those involved in fat, carbohydrate, and amino acid metabolism. Named holocarboxylase synthetase deficiency, it can also be categorized under other multiple carboxylase deficiencies, emphasizing its impact on various biotin-dependent pathways.
Causes & Symptoms
Clinical Causes: Genetic mutations affecting the gene responsible for producing holocarboxylase synthetase Inherited in an autosomal recessive pattern, meaning a person must inherit two copies of the mutated gene to be affected Potential environmental factors that may influence the severity or presentation of the condition, though primarily genetic in origin
Key Symptoms: Poor feeding and vomiting in infants Fungal rashes or skin changes Weak muscle tone (hypotonia) Lethargy and fatigue Developmental delays or regression in children Metabolic crises characterized by acidosis (excess acid in the body) Seizures and neurological disturbances if untreated Elevated levels of certain acids in the blood or urine, indicating disrupted metabolism
Diagnostic & Treatment
Diagnosis Path: Measurement of enzyme activity in blood cells (confirmatory test) Analysis of blood and urine for abnormal organic acids Genetic testing to identify mutations in the gene responsible for holocarboxylase synthetase Newborn screening programs may detect the condition early
Treatment Protocols: High doses of oral biotin supplementation, which can bypass the enzyme deficiency and restore metabolic function Dietary modifications to reduce the intake of certain amino acids and fats that may exacerbate symptoms Monitoring of blood and urine for metabolic stability Supportive therapies such as physical, occupational, or speech therapy for developmental delays Prompt treatment during metabolic crises to prevent neurological damage
Clinical Advice & FAQs
Billing Guidance
Is D81.818 a billable ICD-10 code?
Yes, D81.818 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report D81.818?
Clinical documentation must specify the nature of Other biotin-dependent carboxylase deficiency and any associated comorbidities for accurate reporting.
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