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I see you are asking "What are the causes for homocystinuria?"
Causes. Homocystinuria is inherited in families as an autosomal recessive trait. This means that the child must inherit a non-working copy of the gene from each parent to be seriously affected. Homocystinuria has several features in common with Marfan syndrome, including skeletal and eye changes.
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∙ 13y agowith the drug betaine (Cystadane).
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What is Nitroprusside?
They are two tests that a laboratory would perform on urine to screen for metabolic diseases. The first is to detect ketoaciduria and the second to detect cystinuria/homocystinuria.
What is phenylhydrazine-nitroprusside test?
They are two tests that a laboratory would perform on urine to screen for metabolic diseases. The first is to detect ketoaciduria and the second to detect cystinuria/homocystinuria.
What other inherited disease can be confused with Marfan syndrome?
The symptoms of Marfan syndrome in some patients resemble the symptoms of homocystinuria, which is an inherited disorder marked by extremely high levels of homocystine in the patient's blood and urine.
What is the test for sulphur containing amino acids?
The cyanide-nitroprusside test can be used to detect sulphur. The test detects sulphhydryl group compounds and is used to test urine in screening tests for the metabolic diseases, cystinuria and homocystinuria.
What is an adjunct treatment?
An adjunct treatment is an additional treatment used for increasing the efficacy or safety of a primary treatment.
TennisElbow Treatment?
Neck Pain Treatment, and Shoulder Pain Treatment to Neuropathy Treatment, Spinal Decompression
What is a collective noun for treatment?
A collective noun for treatment is a course of treatment.
Homocystinuria?
DefinitionHomocystinuria is an inherited disorder that affects the metabolism of the amino acidmethionine.Alternative NamesCystathionine beta synthase deficiencyCauses, incidence, and risk factorsHomocystinuria is inherited in families as an autosomal recessive trait. This means that the child must inherit the non-working gene from both parents to be seriously affected.Homocystinuria has several features in common with Marfan syndrome. Unlike Marfan syndrome, in which the joints tend to be "loose," in homocystinuria the joints tend to be "tight."SymptomsNewborn infants appear healthy. Early symptoms, if present at all, are not obvious.Symptoms may occur as mildly delayed development or failure to thrive. Increasing visual problems may lead to diagnosis of this condition.Other symptoms include:Chest deformities (pectus carinatum, pectus excavatum)Flush across the cheeksHigh arches of the feetKnock kneesLong limbsMental retardationNearsightednessPsychiatric disordersSpidery fingers (arachnodactyly)Tall, thin buildSigns and testsWhile performing a physical examination on the child, the health care provider may notice a tall, thin (Marfanoid) stature.Other signs include:Curved spine (scoliosis)Deformity of the chestDislocated lens of the eyeIf there is poor or double vision, an ophthalmologist should perform a dilated eye exam to look for dislocation of the lens or nearsightedness.There may be a history of frequent blood clots. Mental retardation, slightly low IQ, or psychiatric disease are common.Tests:Amino acid screen of blood and urineGenetic testingLiver biopsyand enzyme assaySkeletal x-raySkin biopsywith a fibroblast cultureStandard ophthalmic examTreatmentThere is no cure for homocystinuria. However, many people respond to high doses of vitamin B6 (also known as pyridoxine). Slightly less than half of patients respond to this treatment.Those who do respond will need to take vitamin B6 supplements for the rest of their lives. Those who do not respond need to eat a low-methionine diet. Most will need treatment with trimethylglycine (a medication also known as betaine).Neither a low-methionine diet nor medication will improve existing mental retardation. Medication and diet should be closely supervised by a physician with experience treating homocystinuria.A normal dose folic acid supplement and added cysteine (an amino acid) in the diet are helpful.Expectations (prognosis)Although no cure exists for homocystinuria, vitamin B6 therapy can help about half of people affected by the condition.If the diagnosis is made while a patient is young, starting a low methionine diet quickly can prevent some mental retardation and other complications of the disease. For this reason, some states screen for homocystinuria in all newborns.Patients with persistent rises in blood homocysteine levels are at increased risk for blood clots. Clots can cause significant medical problems and shorten lifespan.ComplicationsMost serious complications result from blood clots. These episodes can be life threatening.Dislocated lenses of the eyes can severely impair vision. Lens replacement surgery should be considered.Mental retardation is a serious consequence of the disease. However, it can be lessened if diagnosed early.Calling your health care providerCall your health care provider if you or a family member shows symptoms of this disorder, particularly if there is a family history of homocystinuria. Also call if you have a family history and are planning to have children.PreventionGenetic counseling is recommended for prospective parents with a family history of homocystinuria. Intrauterine diagnosis of homocystinuria is available. This involves culturing amniotic cells or chorionic villi to test for cystathionine synthase (the enzyme that is missing in homocystinuria).If there are known specific genetic mutations in the parents or family, samples from chorionic villus samplingor amniocentesiscan be used to test for these mutations.ReferencesRezvani I. Defects in metabolism of amino acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 85.
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There is no treatment for cocain
Is a disease that is refractory to treatment is one that responds well to treatment?
A disease that is refractory to treatment is one that stubbornly refuses to respond to treatment.
