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
