Homocystinuria by https://padlet.com/lucasrodriguez91051/g6zfsjby10za Mr. Bonet's Class en-us 2017-05-22 19:29:48 UTC 2025-11-03 07:26:01 UTC hello@padlet.com Homocystinuria Summary lucasrodriguez91051 https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173237510 Homocystinuria, also known as Cystathionine Beta Synthase Deficiency, is an inherited disorder, meaning that it is a sex-linked disorder, but in order for the offspring to have the disorder,  offspring would have to inherit a copy of the defected, mutated gene from both parents. Homocystinuria is a sex-linked disorder where the offspring gets two recessive traits from both carrier parents. Homocystinuria is a mutation in chromosome 21 causing this disorder. CBS Deficiency is a disorder when the metabolism of the amino acid methionine is abnormal. Methionine is used to stop or prevent liver damage. Methionine can be found in meat, fish, and dairy products. This disorder is diagnosed when a child has a curveature of the spine or deformities of the chest. These are not the only observations doctors use to diagnose this disorder. Doctors also take in if you have dislocated lenses in your eyes and they check this by doing an eye examination.]]> 2017-05-22 19:39:52 UTC https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173237510 When and Where Was it discovered? Who discovered it? lucasrodriguez91051 https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173362917 Homocystinuria or Cyststhionine Beta Synthase was first described in 1962 discovered by Irish pediatricians Nina Carson and Desmond Neill. It was in Ireland because in Ireland it is more common to get Homocystinuria. ]]> 2017-05-23 12:12:56 UTC https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173362917 What does it affect? lucasrodriguez91051 https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173706913 Homocystinuria affects the metabolism of the amino acid Methionine, which can be found in meat, milk, yogurt, and fish.]]> 2017-05-24 19:35:47 UTC https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173706913 Scientific and Common Name lucasrodriguez91051 https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173716825 Homocystinuria or Cystathionine Beta Synthase Deficiency is also known as CBS Deficiency. CBS Deficiency is sex-linked.]]> 2017-05-24 20:52:56 UTC https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173716825 Symptoms lucasrodriguez91051 https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173725300 The symptoms include
- Chest Deformities
- Dislocated Lenses
-  Curveature of Spine
-  Blood Clots that are abnormal
- Skinny, Lanky arms
- Weakening of bones 
- Nearsightedness
- Learning Disabilities
- Scoliosis
- Seizures
-Mental Retardation
-Long Limbs
- Flush across the checks.]]> 2017-05-24 22:20:30 UTC https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173725300 Which Chromosome does it affect? lucasrodriguez91051 https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173728198 Homocystinuria is caused by a deformity in chromosome 21. This would be a sex- linked disorder because in order to have the disorder, both parents would need to carry the recessive allele of homocystinuria, and the offspring would have to inherit both]]> 2017-05-24 23:02:13 UTC https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173728198 How does it affect life/lifespan? lucasrodriguez91051 https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173728781 It affects your life by making you have a non to low methionine diet. There is no cure, but high doses of the vitamin B-6 can help. There is a high risk of early death due to the blood clotting abnormally, allowing lesser flow of blood to the bodies organs.]]> 2017-05-24 23:11:38 UTC https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173728781 When is it diagnosed lucasrodriguez91051 https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173730537  Homocystinuria is diagnosed when a person has skinny arms, dislocated lenses, curveature of the spine, or deformities of the chest area.]]> 2017-05-24 23:34:06 UTC https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173730537 Picture lucasrodriguez91051 https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173731620 This picture shows the difference between a regular spine and a spine with scoliosis, a symptom of Homocystinuria ]]> 2017-05-24 23:45:18 UTC https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173731620 Picture lucasrodriguez91051 https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173732729 This picture shows a deformity in the chest, which is also a symptom of Homocystinuria ]]> 2017-05-24 23:59:42 UTC https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173732729 Video lucasrodriguez91051 https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173732805 2017-05-25 00:00:38 UTC https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/173732805 What are the causes? lucasrodriguez91051 https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/174158206 The cause is a deficiency of the enzyme Cyststhionine Beta Synthase.]]> 2017-05-28 20:27:10 UTC https://padlet.com/lucasrodriguez91051/g6zfsjby10za/wish/174158206