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'''For patient information click [[Homocystinuria (patient information)|here]]'''
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{{SK}} CBS deficiency; cystathionine beta-synthase deficiency


==Overview==
==Overview==
'''Homocystinuria''', also known as '''Cystathionine beta synthase deficiency''', is an inherited disorder of the [[metabolism]] of the [[amino acid]] [[methionine]], often involving [[cystathionine beta synthase]]. It is an inherited [[autosomal recessive trait]], which means a child needs to inherit the defective gene from both parents to be affected.  
Homocystinuria, also known as cystathionine beta synthase deficiency, is an inherited disorder of the [[metabolism]] of the [[amino acid]] [[methionine]], often involving [[cystathionine beta synthase]]. It is an inherited [[autosomal recessive trait]], which means a child needs to inherit the defective gene from both parents to be affected.  


==Presentation==
==Presentation==
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{{Metabolic pathology}}
{{Metabolic pathology}}


[[Category:Autosomal recessive disorders]]
[[Category:Disease]]
[[Category:Genetic disorders]]
[[Category:Mature chapter]]
[[Category:Metabolic disorders]]
[[Category:Ophthalmology]]
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Revision as of 17:58, 11 August 2013

Homocystinuria
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Homocysteine
ICD-10 E72.1
ICD-9 270.4
OMIM 236200
DiseasesDB 5991
MedlinePlus 001199
MeSH D006712

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]

Synonyms and keywords: CBS deficiency; cystathionine beta-synthase deficiency

Overview

Homocystinuria, also known as cystathionine beta synthase deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit the defective gene from both parents to be affected.

Presentation

This defect leads to a multisystemic disorder of the connective tissue, muscles, CNS, and cardiovascular system. Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. Infants appear to be normal and early symptoms, if any are present, are vague.

Symptoms

Mortality/morbidity

The life expectancy of patients with homocystinuria is reduced only if untreated. It is known that before the age of 30, almost one fourth of patients die as a result of thrombotic complications (e.g. heart attack).

Treatment

No specific cure has been discovered for homocystinuria; however, many people are treated using high doses of vitamin B6 (also known as pyridoxine). Slightly less than 50% respond to this treatment and need to intake supplemental vitamin B6 for the rest of their lives. Those who do not respond require a low methionine diet, and most will need treatment with trimethylglycine. A normal dose of folic acid supplement and occasionally added cysteine in the diet is helpful.

Recommended diet

Low-protein food is recommended for this disorder, which requires food products low in particular types of amino-acid (i.e. methonine).

References

  1. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:77 ISBN 1591032016
  2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:68 ISBN 140510368X

See also

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