Inherited Metabolic Disorders

Question: Did you know your first and last clue to porphyria in your family may be a fatal drug reaction? Acute flaccid paralysis, fatal seizures, pancreatitis, bowel infarction, acute liver failure, psychosis, catatonia, depression, mania, suicide, photosensitivity, blistering skin lesions, early onset renal failure, pericarditis/myocarditis, sudden cardiac arrest with autonomic arrhythmia, rhabdomyolysis (muscle condition associated with statin drugs), lactic acidosis, eosinophilic fasciitis (another drug or chemical induced reaction) are all presentations of porphyrias. These are complex inherited metabolic disorders that are aggravated by drugs, chemicals, hormones, heavy metals, nutrition, infections and stress, but also modified by the inheritance of other genes including the inheritance of two porphyrias known as dual porphyrias. They are not easy to diagnose with present limited technology and there are multiple DNA subvariants. They are especially difficult to diagnose before puberty and in autopsies. The information is out there in libraries and on Pubmed.

Answer: is this a question???

Question: biology help please ! Mendel & The Gene Idea? Michelle and Keith are apparently normal, but their daughter was born with alkaptonuria, an inherited metabolic disorder. If alkaptonuria is like most human hereditary disorders, what is the probability of their next child being born with alkaptonuria?

Answer: Alkaptonuria is a recessive disorder How do we know? Cause the parents don't have the disorder, thus they are either AA or Aa. As the child has the disorder, we can rule out the parents to be AA as both needs to carry the recessive allele (a) for the child to have the disorder If the disorder is dominant, then at least one of the parents must have it for their child to get the disorder, Thus, using a simple punnet square, we can conclude that the child will have a 1/4 chance of getting it

Question: Gaucher's Disease? I need some picture of Gaucher's Disease.p Gaucher disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain. There are three types of Gaucher disease. The first category, called type 1, is by far the most common. Patients in this group usually bruise easily and experience fatigue due to anemia and low blood platelets. They also have an enlarged liver and spleen, skeletal disorders, and, in some instances, lung and kidney impairment. There are no signs of brain involvement. Symptoms can appear at any age. In type 2 Gaucher disease, liver and spleen enlargement are apparent by 3 months of age. Patients have extensive and progressive brain damage and usually die by 2 years of age. In the third category, called type 3, liver and spleen enlargement is variable, and signs of brain involvement such as seizures gradually become apparent. All Gaucher patients exhibit a deficiency of an enzyme called glucocerebrosidase that is involved in the breakdown and recycling of glucocerebroside. The buildup of this fatty material within cells prevents the cells and organs from functioning properly. Gaucher disease is one of several lipid storage diseases.

Answer: I found some pictures by using these sites. I hope that was helpful.

Question: Genetics Help probability? Ok, so im working on this genetics question. i have most of it, but i cant figure out one part. ill type the question and what i got and then i need help. phenylketonuria, a metabolic disorder in humans, is inherited as an autosomal recessive trait. a husband and wife, both heterozygous for this gene plan to have 6 kids. what is the probability that 4 of the offspring will be normal and 2 will have phenylketonruia. ok, so, i did a punnet square and all the children will have 25% chance of having the disorder, and 50 percent will have the chance of being normal with the carrier and 25% will have the chance of being normal and not being the carrier at all. but i dont know how to use the number of children to figure out the probability of the 4 kids will be normal and 2 wont. help?

Answer: Use fractions. 1/2 and 1/4 1/2 * 1/2= 1/4 1/4 * 1/4=1/16 much easier than working with decimals.

Question: PRINCIPLES OF HEREDITY (my last exercise for the class, need help to finish, stumped on these questions)? 1. In humans, farsightedness is inherited by possession of a dominant allele (A). If a man who is homozygous for normal vision (aa) marries a woman who is heterozygous for farsightedness (Aa), what proportion of their children would be expected to be Farsighted? _____% 2. A metabolic disorder call phenylketonuria (PKU) is due to an adnormal recessive gene (p). Only homozygous recessive individuals exhibit this disorder. What percentage of the offspring will be anticipated to have PKU if the parents are Pp and pp? _____% 3. A man obtained 32 spotted and 10 solid color rabbits from a mating of two spotted rabbits. Which trait is dominant? Recessive? what is the probable genotype of the rabbit parents? _____x_____ 4. Tail length on a bobcat is controlled by incomplete dominance. The alleles are (T) for normal tail length and (t) for tail-less What name could/would you give to the tails of heterozygous (Tt) cats? How would their tail length compare with that of TT or tt bobcats? 5. Assume that that allele controlling brown eyes (B) is dominant over that controlling blue eyes (b) in humans. A blue eyed man marries a brown eyes woman and they have 6 children, all brown eyed. What is that most likely genotype of the father? of the Mother? If the seventh child had blue eyes what could you conclude about the parents genotype? 6.An (XC)(Xc) female marries and (Xc)(Y) man: What is the probability of producing a color blind son? A color blind daughter? A daughter who is a carrier for the color-blind allele?

Answer: Basically, you need to do Punnett squares. Valerie is wrong for #6. If colorblindness was dominant, then the mother would have colorblindness, and she wouldn't be called a carrier. Valerie's calculations are thus incorrect. 1. If the man is aa he can donate a or a to his child. The woman can donate A or a. So the possibilities are: Aa Aa aa aa So 50% of the time they'll be Aa, 50% aa. Farsightedness is Aa, so 50%. 2. 50% Its the exact same one as above, except insert Pp for Aa and pp for aa. For these types of problems, it doesn't matter which one Pp or pp is the male or the female. The only time gender matters is if it is a sex linked allele, in which case they would use X and Y and then the letter for the allele instead of two of the same letters (see number 6.) 3.Spotted is dominant (there are more of them occuring in the same mating pair) Recessive is solid. Ss and Ss ( Would give you 25% SS, 50% Ss, and 25% ss. Since SS and Ss are both phenotypical for spotted, that is 75% total. There is about 75% spotted rabbits in the sample) 4. Since this is incomplete dominance, there is "blending" for instance if RR was a red flower, and rr was a white flower, Rr would make a pink flower. For this one since TT is a normal tail and tt is tail-less, Tt would produce a short tail since its inbetween the two. 5. For the father: bb and the mother: BB. The only way to produce a child with blue eyes is bb. This would not be possible then since only the father has a b allele. If the seventh child had blue eyes, the mother must have a b allele as well, so the father would be bb and the mother would have to be Bb. 6. Well the key to this problem is that color blind is recessive, so little c. The mother is a carrier. So they could have either a daughter who is a carrier (XC)(Xc), a daughter who has colorblindness (Xc)(Xc), a son who is color blind (Xc)(Y), or a son who is not (XC)(Y). All of the probabilities in that question are 25%, since there are four different possibilities of children.

Question: I am insulin resistance - a side effect of PCOS - anyone have any good recomendations for suitible diet? Definition Insulin resistance is not a disease as such but rather a state or condition in which a person's body tissues have a lowered level of response to insulin, a hormone secreted by the pancreas that helps to regulate the level of glucose (sugar) in the body. As a result, the person's body produces larger quantities of insulin to maintain normal levels of glucose in the blood. There is considerable individual variation in sensitivity to insulin within the general population, with the most insulin-sensitive persons being as much as six times as sensitive to the hormone as those identified as most resistant. Some doctors use an arbitrary number, defining insulin resistance as a need for 200 or more units of insulin per day to control blood sugar levels. Various researchers have estimated that 3-16 percent of the general population in the United States and Canada is insulin-resistant; another figure that is sometimes given is 70-80 million Americans. Insulin resistance can be thought of as a set of metabolic dysfunctions associated with or contributing to a range of serious health problems. These disorders include type 2 diabetes (formerly called adult-onset or non-insulin-dependent diabetes), the metabolic syndrome (formerly known as syndrome X), obesity, and polycystic ovary syndrome. Some doctors prefer the term "insulin resistance syndrome" to "metabolic syndrome." Description To understand insulin resistance, it may be helpful for the reader to have a brief account of the way insulin works in the body. After a person eats a meal, digestive juices in the small intestine break down starch or complex sugars in the food into glucose, a simple sugar. The glucose then passes into the bloodstream. When the concentration of glucose in the blood reaches a certain point, the pancreas is stimulated to release insulin into the blood. As the insulin reaches cells in muscle and fatty (adipose) tissues, it attaches itself to molecules called insulin receptors on the surface of the cells. The activation of the insulin receptors sets in motion a series of complex biochemical signals within the cells that allow the cells to take in the glucose and convert it to energy. If the pancreas fails to produce enough insulin or the insulin receptors do not function properly, the cells cannot take in the glucose and the level of glucose in the blood remains high. The insulin may fail to bind to the insulin receptors for any of several reasons. Some persons inherit a gene mutation that leads to the production of a defective form of insulin that cannot bind normally to the insulin receptor. Others may have one of two types of abnormalities in the insulin receptors themselves. In type A, the insulin receptor is missing from the cell surface or does not function properly. In type B, the person's immune system produces autoantibodies to the insulin receptor. In the early stages of insulin resistance, the pancreas steps up its production of insulin in order to control the increased levels of glucose in the blood. As a result, it is not unusual for patients to have high blood sugar levels and high blood insulin levels (a condition known as hyperinsulinemia) at the same time. If insulin resistance is not detected and treated, however, the islets of Langerhans (the insulin-secreting groups of cells) in the pancreas may eventually shut down and decrease in number.

Answer: The information offered by Crayon Girl is good. The foods that she's telling you to avoid are high glycaemic index (GI) foods. Ideally you should be aiming to eat smaller meals, of low glycaemic index foods, but more frequently. So, instead of having 3 main meals in a day, you could try breaking this down to 6 smaller meals a day, with a few hours between them. This lessons the chances of you having a 'sugar spike' where your blood sugar level rises rapidly, causing your pancreas to release more insulin in an attempt to deal with it. Take a look at the following sites for more information on the Glycaemic Index [Glycemic Index, if you're American]. The first site gives a list of the top 50 foods (though I don't know who chose that 50) with their respective glycaemic index values. Edit: The lower the glycaemic index value, the less likely you are to produce more insulin in dealing with it.