Further Outpatient Care
Follow-up visits should be scheduled as needed to ensure that all of the signs and symptoms of the condition have resolved with therapy.
Visual and hearing aids will benefit those with visual or hearing deficits. Children with developmental delay will benefit from appropriate interventions. Appropriate rehabilitation will be needed for those with spastic paresis.
Annual vision and hearing evaluations must be scheduled. In those with genetic defects leading to biotin deficiency, lifelong biotin therapy is needed and lack of compliance may lead to recurrence of symptoms and complications. Periodic assessment with a metabolic specialist will be useful.
Deterrence/Prevention
Instruct patients to avoid consuming raw eggs.
Ensure biotin is included in total parental nutrition (TPN) solutions.
Monitor patients who are receiving prolonged oral antibiotic treatment or anticonvulsant medications for signs and symptoms suggestive of biotin deficiency. Consider biotin supplementation if appropriate.
Pregnant and lactating women should be advised regarding adequate intake of biotin.
Monitor biotin status of individuals at risk of biotin deficiency due to intestinal malabsorption (those with inflammatory bowel disease, short bowel syndrome) and offer biotin supplements if appropriate. Infants placed on hypoallergenic formula containing inadequate biotin should be offered biotin supplements.
Complications
Fungal infections are common at initial presentation and need to be treated with appropriate antifungal medications. In those where the diagnosis has been delayed and irreversible complications have occurred, deficits may persist despite biotin therapy. Complications that may be irreversible include vision and hearing loss, and developmental and cognitive delay.
Prognosis
The prognosis in most cases is excellent when biotin deficiency is promptly detected and treated.
Once biotin therapy has been initiated with the proper dosage, most signs and symptoms of biotin deficiency should begin to disappear within 3-5 weeks and completely resolve within 2-3 months.
Children who have developed sensorineural hearing loss secondary to profound biotinidase deficiency usually do not have improved hearing after biotin treatment. Also, optic atrophy and developmental delay are usually irreversible.
Holocarboxylase synthetase deficiency is biotin-responsive; however, the isolated carboxylase deficiencies are not.
Patient Education
See Overview/Patient Education
Instruct patients regarding the dangers of consuming raw eggs.
Instruct patients who are receiving certain anticonvulsant medications regarding signs and symptoms of biotin deficiency so that they can seek medical attention should signs and symptoms develop.
-
Biotin is a bicyclic (more precisely, heterocyclic) compound composed of an ureido ring (A) fused with a tetrahydrothiophene ring (B). A valeric acid substituent is attached to one of the carbon atoms of the tetrahydrothiophene ring.
-
Carboxybiotin carboxylase is the activated form of a carboxylase that conducts the actual carboxylation of a substrate. The CO2 residue attached to the nitrogen atom diagonally across from the valeric acid substituent is transferred to the substrate to be carboxylated, and the original carboxylase is liberated intact.
-
Depiction of the flow of biotin in the biotin cycle.
-
Biocytin is the product of the complete proteolysis of biotin-containing proteins and peptides. The enzyme biotinidase cleaves biocytin into free biotin and the amino acid lysine. The free biotin is then available for intestinal absorption or intracellular coupling to an apocarboxylase to form a holocarboxylase.
-
The biotin molecule is bound to the protein by a peptide bond to an e-amino group of an apocarboxylase to form a holocarboxylase.
