Homocystinuria is a
Disorder with autosomal recessive inheritance.
Both parents pass on a mutation of either the mthfr gene on the short arm of chromosome (chr.) 1 or the cbs gene on the long arm of chr. 21, causing deficiency in the respective enzymes for which they code. A metabolic geneticist, hematologist or cardiologist can help your doctor with diagnosis.Some specific forms of hcu respond to specific treatment.