Homocystinuria


Description:
Homocystinuria is inherited disorder that affects the metabolism of the amino acid. Metabolism refers to all the physical and chemical processes in the body that converts or uses energy like breathing, circulating blood, controlling body temperature, contracting muscles, digesting food and nutrients, elimating waste through urine and feces functioning of the brain and nerves. Approaches to in born errors of the metabolism.

Inheritance:homocystinuria is inherited in families as autosomal recessive. That means the child must in herit the non working gene from both parents to be seriously affected with the disease. An autosomal gene must be presented in order for the disease or trait to develop. Homocystinuria is an inherited autosomal recessive defect in methionine metabolism that is caused by a deficiency in cystathioine synthase.this defect leads to a multisystemic disorder of the connective tissue, muscles, CNS, and cardiovascular.

Symptoms:
Symptoms may occur as mildly delayed development or failure to thrive increasing visual problems may lead to diagnosis of these condition like chest deformities, flush across the cheeks, high arches of the feet, knock knees, long limbs, mental retardation, near sightedness, psychiatric disorders, and spidery fingers.

Daily Life:


Diagnosis:homocytinuria caused by cystathionine beta synthase deficiency or CBS deficiency. The symptoms including eye problems, skeletal abnormalities, anion creased risk for dangerous blood clots. The cardinal biochemical features of homocystinuria are mark edly increased concentrations of plasma homocystina, total homocysteine, homocysteine cysteine mixed disulfide and methionine.

Treatment:. homocystinuria is treated by a life long treatment is required which is a diet that is low in methionine.some children are given special medical formulas. This provides the correct nutrient your child needs and helps keep their methionine and homocystine levels in a safe range. Some children benefit from particular supplements which may include vitamin B6, betnin, vitamin B12, or folic acid.

Research:
Prenatal diagnosis of homocystathionine synthase if the diagnosis is made while a patient is young vitamin B6 supplementation for those who are responsive. Dietary restriction of methionine with supplementation of cystin for those who are not. Other treatment focused on clinical features such as aspirin to combat thrombosis. With treatment mortality and mental retardation are prevented or reduced, clinical variability of other features remains.

Additional Facts:
There is wide variation in clinical course for affected infants. Clinical features include circulatory blood clotting thromboembolism, physical and mental development disabilities. Approximately half die by age twenty five due to thromboembolism. Development delay a physical defects affect most, the most common defect cystathionine synthase deficiency can be classified as either responsive or non-responsive to treatment with vitamin B6. This may be related to residual enzyme activity needed for response.

Punnett Square:
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Pedigree Chart:
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Resources:
.Pub Med Health