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{{Infobox_Disease |
{{Homocystinuria}}
  Name          = {{PAGENAME}} |
  Image          = L-Homocysteine.svg|
  Caption        = [[Homocysteine]] |
  DiseasesDB    = 5991 |
  ICD10          = {{ICD10|E|72|1|e|70}} |
  ICD9          = {{ICD9|270.4}} |
  ICDO          = |
  OMIM          = 236200 |
  MedlinePlus    = 001199 |
  eMedicineSubj  = |
  eMedicineTopic = |
  MeshID        = D006712 |
}}
{{SI}}
{{CMG}}; {{AE}} {{AO}}
{{CMG}}; {{AE}} {{AO}}


{{SK}} CBS deficiency; cystathionine beta-synthase deficiency
{{SK}} CBS deficiency; cystathionine beta-synthase deficiency


==Overview==
==[[Homocystinuria 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.


==Presentation==
==[[Homocystinuria historical perspective|Historical Perspective]]==
This defect leads to a multisystemic disorder of the [[connective tissue]], [[muscle]]s, [[CNS]], and [[cardiovascular system]]. Homocystinuria represents a group of hereditary [[metabolic disorder]]s characterized by an accumulation of [[homocysteine]] in the [[blood plasma|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==
==[[Homocystinuria classification|Classification]]==
* A family history of homocystinuria
* [[Nearsightedness]]
* Flush across the cheeks
* Tall, thin build
* Long limbs
* High-arched feet ([[pes cavus]])
* Knock-knees ([[genu valgum]])
* [[Pectus excavatum]]
* [[Pectus carinatum]]
* [[Mental retardation]]
* [[Psychiatric disease]]
* Eye anomalies:
* 90% have ectopia lentis
* [[Myopia]]
* [[Glaucoma]]
* Optic atrophy
* Seizure 
* extensive [[atheroma]] formation at young age which affects many arteries but not the coronary arteries <ref>Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:77 ISBN 1591032016</ref> <ref>Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:68 ISBN 140510368X</ref>


==Mortality/morbidity==
==[[Homocystinuria pathophysiology|Pathophysiology]]==
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. [[myocardial infarction|heart attack]]). 
 
==[[Homocystinuria causes|Causes]]==
 
==[[Homocystinuria differential diagnosis|Differentiating Homocystinuria from other Diseases]]==
 
==[[Homocystinuria epidemiology and demographics|Epidemiology and Demographics]]==
 
==[[Homocystinuria risk factors|Risk Factors]]==
 
==[[Homocystinuria screening|Screening]]==
 
==[[Homocystinuria natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
 
==Diagnosis==
[[Homocystinuria history and symptoms|History and Symptoms]] | [[Homocystinuria physical examination |Physical Examination]] | [[Homocystinuria laboratory findings|Laboratory Findings]] | [[Homocystinuria electrocardiogram|Electrocardiogram]] | [[Homocystinuria x ray|X Ray]] | [[Homocystinuria CT|CT]] | [[Homocystinuria MRI|MRI]] | [[Homocystinuria echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Homocystinuria other imaging findings|Other Imaging Findings]] | [[Homocystinuria other diagnostic studies|Other Diagnostic Studies]]


==Treatment==
==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.
[[Homocystinuria medical therapy|Medical Therapy]] |  [[Homocystinuria surgery|Surgery]] | [[Homocystinuria primary prevention|Primary Prevention]] | [[Homocystinuria secondary prevention|Secondary Prevention]] | [[Homocystinuria cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Homocystinuria future or investigational therapies|Future or Investigational Therapies]]


===Recommended diet===
==Case Studies==
Low-protein food is recommended for this disorder, which requires food products low in particular types of amino-acid (i.e. methonine).
[[Homocystinuria case study one|Case #1]]
 
== References ==
{{reflist|2}}


==See also==
==See also==
Line 63: Line 40:
==External links==
==External links==
* [http://www.hcusupport.com/diet.htm Homocystinuria Support]
* [http://www.hcusupport.com/diet.htm Homocystinuria Support]
==References==
{{reflist|2}}


{{Metabolic pathology}}
{{Metabolic pathology}}


[[Category:Autosomal recessive disorders]]
[[Category:Needs content]]
[[Category:Endocrinology]]
[[Category:Disease]]
[[Category:Disease]]
[[Category:Genetic disorders]]
[[Category:Mature chapter]]
[[Category:Metabolic disorders]]
[[Category:Ophthalmology]]
[[Category:Ophthalmology]]
[[Category:Orthopedics]]
[[Category:Orthopedics]]

Latest revision as of 15:23, 22 July 2016

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Overview

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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

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Homocystinuria from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

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Case #1

See also

External links

References

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