Homocystinuria (HCU)

Homocystinuria
(HCU)
What is it?
*Inborn error of protein metabolism
*Caused by an autosomal recessive trait- the cystathionine enzyme is missing
*May be due to damaged Vitamin B6 metabolism
-low levels of reductase enzyme- methionine to cysteine conversion
Sources of methionine:
*Meat, poultry, fish, eggs,
-Soy Products- ProSobee, Soyalac, Isomil
-Hominex 1 or HOM 1 for infants, Hominex 2 or HOM 2 for children
*Need Vitamin B6, Folic Acid
-See FFF information on B6 and Folic Acid
Facts:
*Occurs 1 in 20,000 to 1 in 200,000 births
*Urinary excretion of homocystine is unusual
*If untreated may lead to mental retardation, poor growth, seizures, strokes,
cataracts, glaucoma, thromboses, osteoporosis, hepatic disease
*Low folic acid intakes can aggravate the symptoms
What can I do?
*See your Physician
*See RD for help with meal planning
*See FFF RD on line
*Need to decrease methionine in diet to prevent homocysteine accumulation
*Work with MD and RD to prevent cardiac problems, further mental retardation,
growth delays, supplement with nutrients as needed
*Low Protein diet is needed with cystine, Increase Fluids
*Dipyridamole to decrease thrombosis