Holocarboxylase synthetase (HCS) deficiency was defined as a distinct genetic disorder several years after its initial clinical description, similar. Because of the acute and fulminant initial presentation of holocarboxylase synthetase (HCS) deficiency, treatment is almost always initiated in. Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin effectively. This disorder is.

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Please consider making a donation now and again in the future. Newborn screening is an evolving system that is different throughout the country.

Holocarboxylase synthetase deficiency

Holocarboxylase synthetase deficiency is caused by mutations in the HLCS gene 21q TEXT A number sign is used with this entry because holocarboxylase synthetase deficiency is caused by homozygous or compound heterozygous mutation in the HLCS gene on chromosome 21q Clinical and metabolic abnormalities in a boy with dietary deficiency of biotin.

HLCS activity ranged from 0. Timely and ongoing treatment makes it possible to reduce symptoms considerably, although some patients develop complications despite appropriate treatment often requiring higher doses of biotin. Enzyme studies in biotin-responsive disorders. Init was shown that the primary biochemical defect in most patients with late-onset multiple carboxylase deficiency was deficient activity of serum biotinidase Wolf et al Multiple carboxylase defects and complementation studies in biotin responsive organicaciduria.

Orphanet: Holocarboxylase synthetase deficiency

Immediate treatment and lifelong management using biotin supplements may prevent many of these complications. Mutations in the holocarboxylase synthetase gene HLCS.

Since then, 14 patients with holocarboxylase synthetase deficiency have been reported. Retrieved from ” https: Professionals Summary information Greekpdf Polskipdf. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for MCD, and understand what this diagnosis means for other family members and future pregnancies. If holocarboxylase synthetase deficiency is not treated, children can develop seizures or permanent brain damage.


Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin effectively. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. Learn more about autosomal recessive inheritance. This page was last edited on 9 Februaryat It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition.

Signs of holocarboxylase synthetase deficiency MCD begin in infancy, usually in the first few days of life. Some affected individuals are identified through newborn screening by demonstration of abnormal organic acids, consistent with multiple carboxyalse deficiency. However, a few babies do have the condition, so it is very important that you go to your follow-up appointment for a confirmatory test. Affected infants often have immunodeficiency diseases, difficulty feeding, breathing problems, a skin rashhair loss alopeciaand a lack of energy lethargy.

Wolf of Lurie Children’s Hospital of Chicago has no relevant financial relationships to disclose.

Treatment Babies with holocarboxylase synthetase deficiency MCD need to take biotin supplements to replace the natural biotin that is not working correctly. National Info Newborn screening holocarboxtlase an evolving system that is different throughout the country. Differential synthetas Conditions to be considered in the differential diagnosis based on organic acids include biotinidase deficiency see this term and isolated carboxyalse deficiencies; based on hyperammonemia, include urea cycle defects see this term ; and based on neurological compromise and seizures in the neonatal period, include sepsis and other inborn errors of metabolism.

These medical problems may be life-threatening in some cases.

Biotin holocarboxylase synthetase deficiency

CC HPO: Genetic counseling is available to families who have children with the disorder. They proposed that the patients be classified into 2 categories: These other enzymes need biotin in order to break down food.


From Wikipedia, the free encyclopedia. For all other comments, please send your remarks sjnthetase contact us. Treatment should be started as soon as possible after diagnosis and must be continued lifelong. Each disorder is treated by dietary restrictions, but fails to respond to pharmacological doses of biotin. People with this condition have trouble using biotin, a vitamin that helps turn certain carbohydrates and proteins into energy for the body.

Three patients developed severe acidosis in the first few days of life and died soon after.

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These children often develop growth and developmental delays. Causes When we eat food, enzymes help break it down for energy. Summary and related texts. Each family has a unique experience and each condition is very different.

One of the patients was reported by Fuchshuber et al. The neonatal form of biotin-responsive multiple carboxylase deficiency.

The results of studies of cultured fibroblasts were in accordance with a primary defect of holocarboxylase synthetase due to a decreased affinity for biotin. Although most patients in this class show congenital lactic acidosis, milder cases occur. Most patients present in the newborn or early infantile period, but some become symptomatic in the later infantile period holocqrboxylase by Suzuki et al. Tetrahydrobiopterin deficiency Molybdenum cofactor deficiency.

This is synnthetase the only treatment your baby will need, but it is important to start treatment early to avoid any life-threatening signs and symptoms.