homocystinuria…

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pectus excavatum, cystathionine beta synthase deficiency, homocystinuria, inherited disorder, the metabolism, the amino acid methionine, homocystinuria is inherited, an autosomal recessive trait, that the child must inherit the defective gene from both parents to be seriously affected, typical problems, homocystinuria, nearsightedness, dislocation, the lens, the eye, a tendency to develop blood clots, in the veins, arteries, newborn infants appear normal, early symptoms, present at, vague, mildly delayed development, failure to thrive, increasing visual problems, lead to diagnosis of this condition, the child, on examination, discovered to have dislocated lenses, nearsightedness, degree of mental retardation, affected people have normal iqs, mental retardation is present, generally progressive, left untreated, increase the risk, psychiatric disorders, homocystinuria has several features in common, marfan syndrome, dislocation, the lens, a tall, thin build, long limbs, spidery fingers, arachnodactyly, a pectus deformity, the chest, have high arches, the feet, pes cavus, knock-knees, genu valgum, a curved spine, scoliosis, unlike marfan syndrome, the joints tend to be "loose", in homocysturia the joints tend to be "tight", individuals, homocysturia, have generalized osteoporosis, people commonly develop blood clots, clots, dislodge, travel, form an embolus, damage any tissue, the clot lodges, clots that travel, brain, cause stroke, a family history of homocystinuria, nearsightedness, flush across the cheeks, tall, thin build, long limbs, high-arched feet, pes cavus, knock-knees, genu valgum, pectus excavatum, pectus carinatum, mental retardation, psychiatric disease, a physical examination, the child, a tall, thin, marfanoid, stature, pectus deformity, the chest, scoliosis, is poor, double vision, an ophthalmologist should perform a dilated eye exam where dislocation, the lens, the eye, nearsightedness observed, a history of frequent blood clots, mental retardation, slightly low iq, psychiatric disease, common, a skeletal x-ray shows osteoporosis, a standard ophthalmic exam confirms nearsightedness, a dislocated lens, children, have cataracts, glaucoma, retinal detachment, an amino acid screen of blood, urine shows elevated methionine, homocysteine levels, a liver biopsy, enzyme assay shows an absence, the enzyme cystathionine beta synthase, a skin biopsy, a fibroblast culture shows an absence of cystathionine beta synthase, genetic testing, a mutation, in the cystathionine beta synthase gene, no specific cure, homocystinuria, respond to high doses of vitamin b-6, pyridoxine, slightly less than half of patients respond to this treatment, that, respond need supplemental vitamin b-6, the rest of lives, not respond, require a low methionine diet, need treatment, trimethylglycine, a medication also known, betaine, neither a low-methionine diet nor medication, improve existing mental retardation, diet, closely supervised by a physician, experience treating homocystinuria, a normal dose folic acid supplement, occasionally added cysteine, an amino acid, diet is helpful, no specific cure exists, homocystinuria, half, the affected people, helped by vitamin b-6 therapy, diagnosis is made a patient is young, a low methionine diet started promptly, strictly adhered to, spare some mental retardation, complications, states screen, homocystinuria in all newborns, unfortunately, patients, persistent increases in blood homocysteine levels, at increased risk, blood clots, cause significant medical problems, shorten life span, most serious complications result from blood clots, episodes, life threatening, dislocated lenses, the eyes, severely impair vision, lens replacement surgery, mental retardation, serious consequence, the disease, moderated, diagnosed early, a family member shows signs, symptoms suggestive of this disorder, family history of homocystinuria, family history, planning a pregnancy, genetic counseling, prospective parents, a family history of homocystinuria, intrauterine diagnosis of homocystinuria is available, made by culturing amniotic cells, chorionic villi, the presence, absence of cystathionine synthase, enzyme that is missing in homocystinuria.