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.

Author: Doukora Fauzilkree
Country: Kuwait
Language: English (Spanish)
Genre: Art
Published (Last): 6 January 2012
Pages: 39
PDF File Size: 17.49 Mb
ePub File Size: 13.86 Mb
ISBN: 746-4-53161-853-1
Downloads: 50034
Price: Free* [*Free Regsitration Required]
Uploader: Shakalmaran

Biotin is a type of vitamin that your body needs to digest food. Morbidity in surviving affected individuals depends on the time of diagnosis and on the degree of damage related deficienxy metabolic crises.

Holocarboxylase synthetase deficiency

Metabolically, they have ketolactic acidosis, organic acidemia -uria and hyperammonemia. Most patients present in the newborn or holoczrboxylase infantile period, but some become symptomatic in the later infantile period summary by Suzuki et al. Biotin supplementation resulted in marked clinical and biochemical improvement. Only comments written in English can be processed. People with this condition have trouble using biotin, a vitamin that deiciency turn certain carbohydrates and proteins into energy for the body.

Health care resources for this disease Expert centres Diagnostic tests Patient organisations 43 Orphan drug s 0. Wolf of Lurie Children’s Hospital of Chicago has no relevant financial relationships to disclose.


Biotin holocarboxylase synthetase deficiency

Differences among the values obtained for the Km for biotin and the heat stability of holocarboxylase synthetase suggested that the patients studied represented at least 4 distinct variants at the holocarboxylase synthetase locus.

Autosomal recessive disorders Vitamin, coenzyme, and cofactor metabolism disorders Genodermatoses Rare diseases.

Diagnosis is based on clinical signs and typical organic acid abnormalities. Biotinidase deficiency Holocarboxylase synthetase deficiency.

Please consider making a donation now and again in the future. Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.

Holocarboxylase synthetase HCS deficiency is a life-threatening early-onset form of multiple carboxylase deficiency see this terman inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma. Treatment Babies with holocarboxylase synthetase deficiency MCD need to take biotin supplements to replace the natural biotin that is not working correctly.

There was a problem providing the content you requested

In 9 patients with multiple carboxylase deficiency, Dupuis et al. We’re sorry to hear that. There were no panethnically prevalent mutations.

Medical geneticsEndocrinology. At this time, we do not have any family stories for this particular condition. A defect in biotinidase activity has been demonstrated in such holkcarboxylase Wolf et al.

Originally released February 7, ; last updated May 12, ; expires May 12, Causes When we eat food, enzymes help break it down for energy. Biochemical characterization of biotin-responsive multiple carboxylase deficiency: This article includes discussion of biotin holocarboxylase synthetase deficiency, biotin-responsive beta-methylcrotonylglycinuria, biotin-responsive multiple carboxylase deficiency, and holocarboxylase synthetase deficiency.


An out-of-range result may occur because the initial blood sample was too small or the test was performed too early.

Because MCD is a genetic conditionyou may want to talk with a genetics specialist.

Holocarboxylase synthetase deficiency – Wikipedia

Families’ Experiences At this time, we do not have any family stories for this particular condition. Three patients developed severe acidosis in the first few days of life and died soon after.

Each deficiency is due specifically to a structural abnormality in its respective enzyme; the activities of the other carboxylases are normal. Biotin-responsive multiple carboxylase deficiency of infantile onset. Site license users, click the Site License Acces link on the Homepage at an authorized computer.

Holocarboxylase synthetase deficiency MCD is a condition in which the body is unable to break down proteins and carbohydrates.

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered.