An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.

Symptoms of Homocystinuria

The following features are indicative of Homocystinuria:
  • chest deformities
  • flush across the cheeks
  • high arches of the feet
  • intellectual disability
  • knock knees
  • long limbs
  • mental disorders
  • nearsightedness
  • arachnodactyly

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Common Causes of Homocystinuria

The following are the most common causes of Homocystinuria:
  • deficiency of long arm (q) of chromosome 21 (21q22.3)
  • deficiency of the enzyme cystathionine beta synthase
  • deficiency of folic acid, vitamin B12 and pyridoxine (vitamin B6)

Risk Factors for Homocystinuria

The following factors may increase the likelihood of Homocystinuria:
  • abnormal blood clotting
  • brittle bones
  • osteoporosis
  • skeletal abnormalities

Prevention of Homocystinuria

Yes, it may be possible to prevent Homocystinuria. Prevention may be possible by doing the following:
  • low protein
  • low methionine diet
  • cysteine rich diet

Occurrence of Homocystinuria

Number of Cases

The following are the number of Homocystinuria cases seen each year worldwide:
  • Extremely rare less than 1000 cases

Common Age Group

Homocystinuria most commonly occurs in the following age group:
  • At birth

Common Gender

Homocystinuria can occur in any gender.

Lab Tests and Procedures for Diagnosis of Homocystinuria

The following lab tests and procedures are used to detect Homocystinuria:
  • Blood test: To elevate the levels of homocysteine, methionine, or homocysteine in the plasma
  • Newborn screening: To test newborns for various metabolic disorders

Doctor for Diagnosis of Homocystinuria

Patients should visit the following specialists if they have symptoms of Homocystinuria:
  • Endocrinologist

Complications of Homocystinuria if untreated

Yes, Homocystinuria causes complications if it is not treated. Below is the list of complications and problems that may arise if Homocystinuria is left untreated:
  • thrombosis
  • thromboembolisms
  • can be fatal

Self-care for Homocystinuria

The following self-care actions or lifestyle changes may help in the treatment or management of Homocystinuria:
  • Healthy diet: Maintain a proper diet chart to fulfill the body needs

Patient Support for Treatment of Homocystinuria

The following actions may help Homocystinuria patients:
  • Family support: To support emotionally and help in daily routine

Time for Treatment of Homocystinuria

While time-period of treatment for each patient may vary, below is the typical time-period for Homocystinuria to resolve if treated properly under an expert supervision:
  • Disease cannot be treated but only maintained or effects reduced

Related Topics

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Homocystinuria.

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