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Homocystinuria: Introduction

Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body. More detailed information about the symptoms, causes, and treatments of Homocystinuria is available below.

Symptoms of Homocystinuria

Treatments for Homocystinuria

  • Vitamin B6 supplementation
  • Betaine administration for patients who don't respond to Vitamin B6
  • Folic acid and Vitamin B12 supplements are also recommended
  • Increase cysteine in diet
  • Restrict methionine in diet
  • more treatments...»

Home Diagnostic Testing

Home medical testing related to Homocystinuria:

Wrongly Diagnosed with Homocystinuria?

Homocystinuria: Complications

Review possible medical complications related to Homocystinuria:

  • Tall stature if untreated
  • Knobbly knees if untreated
  • Flat footed gait if untreated
  • Osteoporosis of the spine if untreated
  • Early death from spontaneous thromboses
  • more complications...»

Causes of Homocystinuria

More information about causes of Homocystinuria:

Disease Topics Related To Homocystinuria

Research the causes of these diseases that are similar to, or related to, Homocystinuria:

Less Common Symptoms of Homocystinuria

Homocystinuria: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Homocystinuria

Interstitial cystitis an under-diagnosed bladder condition: The medical condition of interstitial cystitic is a bladder condition that can be misdiagnosed as various conditions such as overactive bladder or more »

Homocystinuria: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Prognosis for Homocystinuria

Prognosis for Homocystinuria: The range and severity of symptoms and manifestations can vary considerably depending on whether the condition is diagnosed in a timely manner and whether treatment is adhered to. Patients that respond to vitamin B6 tend to fare better as they're condition is able to be managed better and complications can be avoided.

Research about Homocystinuria

Visit our research pages for current research about Homocystinuria treatments.

Clinical Trials for Homocystinuria

The US based website lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on for Homocystinuria include:

Statistics for Homocystinuria

Homocystinuria: Broader Related Topics

User Interactive Forums

Read about other experiences, ask a question about Homocystinuria, or answer someone else's question, on our message boards:

Definitions of Homocystinuria:

An autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall, slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varis, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979) - (Source - Diseases Database)

Homocystinuria is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Homocystinuria, or a subtype of Homocystinuria, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Related Homocystinuria Info

Videos about Homocystinuria


More information about Homocystinuria

  1. Homocystinuria: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Home Testing
  7. Complications
  8. Prognosis

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