Homocystinuria is an inherited metabolic disorder of sulfur metabolism. Cystathionine beta-synthase (CBS) deficiency leads to accumulation of homocysteine. This can be harmful.
Infants with this disorder are normal at birth. Clinical manifestations during infancy are nonspecific and may include failure to thrive and developmental delay.
The diagnosis is made usually after 3 years of age. Elevation of both methionine and homocysteine in body fluids are the diagnostic laboratory findings.
Why Nutrition Management is important?
Protein free diet/ low-methionine diet is recommended. It is believed that this diet helps to reduce further complications.
Breastfeeding and baby milk also need to be monitored and measured. However, to prevent protein malnutrition, a methionine-free amino acid formula supplying the other amino acids (as well as cysteine, which may be an essential amino acid in CBS deficiency) vitamins and minerals is provided.
The diet is specific to each infant depending on the severity of condition, age, growth rate and result of diagnostic reports. Consult a dietician to fine-tune your child’s diet over time.
Providing education and support for the family is the key to a successful long range of therapy. Effective treatment is best achieved by a team of specialists such as your Physician, Nutritionist, Geneticist, Neurologist, and Psychologist.