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Homocystinuria Screenshot_20200414-201206-1 (Clinical manifestations…
Homocystinuria
DEFINITION
Is a rare inherited metabolic disorder characterised-
By an increased blood and urine concentration of -
Homocysteria sulfer containing amino acids.
Pathophysiology
Resulting to degeneration of retina ganglion cells.
Is a mithochondrial transmitted from mother to offsprings
Clinical manifestations
Learning disabilities
Developmental problems
Osteoporosis
Chest deformities
Abnormal bloods, clots
Long , spindly arms and legs.
Nearsightedness
Scoliosis
Dislocation of the lenses in the eye
Cause
Mutation is found in the gene called-
Cystathiane beta synthase
Caused by genetic mutation that is present at birth
This results in build up of homocysteine and other toxins.
Diagnostic tests
Test to determine the response of methionine
Liver biopsy and enzyme essay.
Urine screen to check for excess homocysteine.
X- ray to check osteoposis
Amino acid screening
Skin biopsy
Genetic testing to look for a gene involved in disorder.
Treatment
Vitamin B 6 is a successful treatment-
For about half of people with the disorder
No cure for homocystinuria.
Nursing management
Administer folic supplements as ordered by the docter.
Restrict food with methionine
Eat mainly of fruit and vegetable.
Give health education to the patient to allay anxiety
