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Hemophilia is recessive . Symptoms are bleeding, and joint pains, double vision, headaches and more.

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Hemophilia is a rare disorder in which your blood doesn't clot normally because it lacks sufficient blood-clotting proteins (clotting factors).

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In people with CF, a defective gene causes a thick, buildup of mucus in the lungs, pancreas and other organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food. Symptoms include salty skin, coughing with phlegm, shortness of breath inability to gain weight even if you eat a lot. It is a recessive trait.

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What Is PKU?

High-protein diets are all the rage right now. Diets high in protein and low in carbohydrates will help you get strong and lean, right? Well, not for some people! For some individuals with a rare metabolic disorder, protein is toxic and should be nearly eliminated from their diet. Want to know more about this disease, where carbohydrates have become an ally? Keep reading!

The disease is called phenylketonuria, or PKU. In this disease, people have a rare metabolic defect in which they cannot break down the amino acid phenylalanine. Amino acids make up proteins, which are in foods we eat such as meat, eggs, or diary.

Since those with PKU cannot break down phenylalanine, it starts to build up in their blood. Eventually, this amino acid starts to cause brain damage. If not treated, the damage may be irreversible. Imagine if you had a factory where you broke down boxes into pieces of cardboard and then recycled them. If one of the machines that takes apart the boxes broke, the boxes that were just entering the factory would build up. Eventually, the factory would get so backed up that things would break down. This is what's going on in the brains of people with PKU. The phenylalanine starts to build up, and the person's brain stops functioning correctly.

How Is PKU inherited?

PKU is a genetic disorder, meaning it is inherited from one's parents. The disease is autosomal recessive, meaning the person must inherit one defective copy from each parent to get the disease. If one parent has the mutation, or defective gene, and the other doesn't, the child is safe from inheriting PKU.

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what is phenylketonuria (pku)? - definition

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symptoms & treatment - video & lesson transcript | study.com

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What is Phenylketonuria (PKU)? - Definition, Symptoms & Treatment - Video & Lesson Transcript | Study.com

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High-protein diets are all the rage right now. Diets high in protein and low in carbohydrates will help you get strong and lean, right? Well, not for some people! For some individuals with a rare metabolic disorder, protein is toxic and should be nearly eliminated from their diet.

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Phenylketonuria (PKU,) is a rare inherited disorder that causes an amino acid called phenylalanine to build up in your body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine (which is found in all proteins). The disease is inherited as a recessive trait. Slowed development, inability to be well, slow growth, short stature, in extreme cases seizures and mental retardation.

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Huntington's disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disorder. Symptoms are stiffness or awkward walking, change in speech, and trouble learning new information.

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Huntington's disease is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain

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Mode of inheritance: Sickle Cell disease is an autosomal recessive. Symptoms are episodes of pain, swellings of the hands and feets, vision problems, delayed growth, and more.

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Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body.

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PWSH 2016 One Minute Clinical Video - Sickle Cell Anemia

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Mode of inheritance: tay Sacs disease is an autosomal recessive genetic disorder. The symptoms include muscle weakness, paralysis, loss of vision. loss of hearing, repeated seizures and difficulty swallowing

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A defective gene on chromosome 15 (HEX-A) causes Tay-Sachs disease. This defective gene causes the body to not make a protein called hexosaminidase A. Without this protein, chemicals called gangliosides build up in nerve cells in the brain, destroying brain cells.

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Video made for Biology class on genetic disorders. enjoy!