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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Biotin-responsive multiple carboxylase deficiency of infantile onset. Mutations in the HLCS gene reduce the activity of holocarboxylase synthetase, preventing cells from using biotin effectively and disrupting many cellular functions.

Unfortunately, it is not reficiency to produce. Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Other website s 4. Each deficiency is due specifically to a structural abnormality in its respective enzyme; the activities of the other carboxylases are normal. Two forms of biotin-responsive multiple carboxylase deficiency. Autosomal recessive disorders Vitamin, coenzyme, and cofactor metabolism disorders Genodermatoses Rare diseases.

CC ]. Infobox medical condition new All articles with unsourced statements Articles with unsourced statements from May Articles to be expanded from May All articles to be expanded Articles with empty sections from May All articles with empty sections Articles using small message boxes.

Confirmational testing can be performed by feficiency deficient HCS activity in leukocytes or fibroblast extracts or by mutation analysis. Both cell lines were deficient in the 3 biotin-dependent carboxylases and belonged to the ‘bio’ complementation group. 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.


Holocarboxylase synthetase deficiency

Inthe first patient diagnosed with such a disorder was reported as having biotin-responsive beta-methylcrotonylglycinuria Gompertz et al Metabolic disorders of vitaminscoenzymes, and cofactors.

These medical problems may be life-threatening in some cases. Biotin-responsive carboxylase deficiency associated with subnormal plasma and urinary biotin.

A primary or secondary defect in biotin absorption leads to alopecia, an erythematous periorificial dermatitis, and ataxia in babies with infantile-onset disease. Poor appetite Vomiting Sleeping longer and more often Tiredness Irritability Weak muscle tone known as hypotonia Peeling skin rash Hair loss called alopecia Many of these signs may occur when your baby eats foods that their body cannot break down.

Diagnostic methods Some affected individuals are identified through newborn screening by demonstration of abnormal organic acids, consistent with multiple carboxyalse deficiency.

The documents contained in this web site are presented for information purposes only. In 9 patients with multiple carboxylase deficiency, Dupuis et al. Biotin is a type of vitamin that your body needs to digest food. The HLCS gene makes an enzymeholocarboxylase synthetasethat attaches biotin to other molecules.

Byadditional patients with multiple or combined carboxylase deficiencies were reported. Most of the reported patients with the early-onset form of the disorder were hklocarboxylase to have deficient holocarboxylase synthetase activity, with markedly elevated Michaelis constants of biotin for the enzyme Burri et al The signs and symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, but the age of onset varies.

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By using this site, you agree to the Terms holkcarboxylase Use and Privacy Policy. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 43 Orphan drug s 0.

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Without treatment, affected infants may progress to intractable seizures, deficiemcy edema and coma. Mutations in the HLCS gene cause holocarboxylase synthetase deficiency.

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If you are a subscriber, please log in. In some cases, follow-up testing may include testing a very small sample of skin.

In the absence of early diagnosis and treatment, mortality is high. Signs of holocarboxylase synthetase deficiency MCD begin in infancy, usually in the synthetxse few days of life. If your baby takes biotin supplements, they can live a healthy life and have typical development.

This page was last edited on 9 Februaryat Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.

Orphanet: Holocarboxylase synthetase deficiency

Early detection and treatment often can prevent the severe outcomes of MCD. HLCS activity ranged from 0. Only comments written in English can be processed.

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