When a person has holocarboxylase synthetase deficiency, their body is unable to metabolize proteins and carbs. Biotin is a vitamin that aids in the body's conversion of specific carbs and proteins into energy; however, people with this illness have difficulty utilizing it. Because it can result in a dangerous accumulation of organic acids and toxins in the body, holocarboxylase synthetase deficiency is regarded as an organic acid condition. The worst effects of holocarboxylase synthetase deficiency can frequently be avoided with early detection and treatment.
Treatment for holocarboxylase synthetase deficiency
1. The majority of the time, supplements will be the only therapy your kid requires, but it is crucial to begin it as soon as possible to prevent any life-threatening symptoms or indications.
2. Your youngster will have biotin treatment for the rest of his or her life. You'll need a prescription for these supplements from your baby's doctor.
3. For holocarboxylase synthetase deficiency babies, biotin supplements are necessary to replenish the deficient natural biotin. Your body requires vitamin biotin to digest meals.
4. The majority of the early indicators of holocarboxylase synthetase deficiency listed in the Early Signs section can be avoided by your baby by taking these supplements.
5.Supplemental biotin may occasionally be able to eliminate any symptoms that are already present.
Management of holocarboxylase synthetase deficiency
1. The main treatment for holocarboxylase synthetase deficiency is free biotin supplementation, which can improve the clinical status of people with enzyme deficiency who are symptomatic and stop some or all symptoms from arising in people with the illness who are asymptomatic.
2. As soon as a diagnosis is made, treatment should begin, and it must last a lifetime.
3. Affected people need to be watched for issues that develop later and for therapy adherence.
4. Even while timely and continued treatment can significantly minimize symptoms, some individuals still experience difficulties, and proper treatment frequently necessitates greater doses of biotin
Poor appetite,Vomiting,Sleeping longer and more often,Tiredness,Irritability,Weak muscle tone (known as hypotonia),Peeling skin rash,Hair loss (called alopecia)
The body is unable to break down proteins and carbohydrates