Multiple carboxylase deficiency is biotin-responsive disorder. Affected patients present with metabolic acidosis, hypotonia, lethargy, skin rash, alopecia and seizure. The symptoms can manifest soon after birth or late in the infantile period. The prevalence is unknown. However, it is considered a rare disorder. It is inherited in an autosomal recessive pattern. Treatment includes a supplementation of biotin 5-40mg/day. An early institution of biotin ensures a better outcome.
Touma et al (1999) reported a case of holocarboxylase deficiency in Lebanon. The female patient was born to consanguineous parents, and presneted with an infantile-onset of the condition.
Moammar et al. (2010) reviewed all patients diagnosed with inborn errors of metabolism (IEM) from 1983 to 2008 at Saudi Aramco medical facilities in the Eastern province of Saudi Arabia. During the study period, 165530 Saudi infants were born, of whom a total of 248 newborns were diagnosed with 55 IEM. Affected patients were evaluated based on clinical manifestations or family history of similar illness and/or unexplained neonatal deaths. Almost all patients were born to consanguineous parents. Organic acidopathies (OA) were diagnosed in 48 out of 248 cases (19%), which constituted the second largest group of IEM found in this cohort after lysosomal storage disease. Among the group with OA, two cases from three families were diagnosed to have multiple carboxylase deficiency. The estimated incidence of multiple carboxylase deficiency in this cohort was 1 in 100,000 live births. The authors concluded that data obtained from this study underestimate the true figures of various IEM in the region. Therefore, there is an urgent need for centralized newborn screening program that utilizes tandem mass spectrometry, and offers genetic counseling for these families.