Multiple carboxylase deficiency, biotin responsive

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Multiple Carboxylase Deficiency, Biotin Responsive

Multiple Carboxylase Deficiency, Biotin Responsive is a rare metabolic disorder characterized by the body's inability to properly process certain carboxylase enzymes due to a deficiency in biotin. Biotin, also known as vitamin B7, is a crucial coenzyme for carboxylase enzymes involved in processes such as fatty acid synthesis, amino acid catabolism, and gluconeogenesis. This disorder is categorized into two main types: early-onset, known as Holocarboxylase Synthetase Deficiency, and late-onset, known as Biotinidase Deficiency.

Symptoms and Signs

Symptoms of Multiple Carboxylase Deficiency can vary widely but often include skin rash, alopecia (hair loss), seizures, ataxia (lack of muscle coordination), developmental delay, and metabolic acidosis. The severity and onset of symptoms depend on the type of deficiency (early or late onset).

Causes

The disorder is caused by mutations in genes responsible for the activation (in the case of Holocarboxylase Synthetase Deficiency) or recycling (in the case of Biotinidase Deficiency) of biotin. These mutations lead to reduced activity of biotin-dependent carboxylase enzymes.

Diagnosis

Diagnosis of Multiple Carboxylase Deficiency involves clinical evaluation of symptoms, biochemical tests showing abnormal levels of organic acids in the urine, and genetic testing to identify mutations in the relevant genes.

Treatment

The primary treatment for Multiple Carboxylase Deficiency is the administration of oral biotin supplements. This treatment is often effective in reversing symptoms and preventing complications if started early. The dosage and duration of biotin therapy may vary depending on the type of deficiency and the severity of symptoms.

Prognosis

With early diagnosis and appropriate treatment, individuals with Multiple Carboxylase Deficiency can lead normal, healthy lives. However, delayed treatment or lack of treatment can result in serious complications, including developmental delays and life-threatening metabolic crises.

Resources

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Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on Multiple carboxylase deficiency, biotin responsive for any updates.

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