Homocystinuria (HCU)

Homocystinuria

Homocystinuria is a genetic disorder where your body is not able to process parts of proteins very well. Proteins are found in the foods you eat. The proteins are made of smaller building blocks called amino acids. With this disorder, you are not able to break down some parts of proteins. Then the amino acids build up in your blood and cause problems. Homocysteine is the name of the amino acid that builds up in your blood.

Lower homocystine levels in the blood,Give missing enzymes,Give vitamins and minerals, such as B6 or folic acid,Help prevent stroke

Blood clots,Weakening of bones,Learning disability,Problems seeing,Delay in development

Endocrine and Metabolic,Medical Genetics,Neonatal,Pediatric

Amino Acid Disorder,CBS Deficiency,Cystathionine Beta Synthase Deficiency,HCU,HCY,Homocysteinemia

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