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'''For patient information click [[Homocystinuria (patient information)|here]]'''
__NOTOC__
{{Infobox_Disease |
{{Homocystinuria}}
  Name          = {{PAGENAME}} |
{{CMG}}; {{AE}} {{AO}}
  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 |
}}
{{Search infobox}}
{{CMG}}


==Overview==
{{SK}} CBS deficiency; cystathionine beta-synthase deficiency
'''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 overview|Overview]]==
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 historical perspective|Historical Perspective]]==
* 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 classification|Classification]]==
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 pathophysiology|Pathophysiology]]==
 
==[[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===
Low-protein food is recommended for this disorder, which requires food products low in particular types of amino-acid (i.e. methonine).


== References ==
==Case Studies==
<references />
[[Homocystinuria case study one|Case #1]]


==See also==
==See also==
Line 61: 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}}


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Latest revision as of 15:23, 22 July 2016

Homocystinuria Microchapters

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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

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Primary Prevention

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Case #1

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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

Case Studies

Case #1

See also

External links

References

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