Maple Syrup Urine Disease Analysis

The mother, who is a carrier, inherits an X-Linked or sex-linked faulty gene. The result is producing an affected son and or a daughter being a carrier. The second way is an affected male producing children, particularly daughters. All daughters born to fathers with x-linked muscular dystrophy will be carriers; on the contrary their sons will be unaffected. Scientists link this to a genetic mutation in the gene, appearing most often for the first time in a family.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Maple Syrup Urine Disease is a genetic disorder caused by mutation in the DBT, DLD, BCKDHB, and BCKDHA genes, which codes for Branched Chain Keto Acid Dehydrogenase (BCKD). Normally, BCKD would process the keto acid derivatives for leucine, isoleucine, and valine and continue them on their respective metabolic pathways. As a result of these breaks in the metabolic pathway, the patient may suffer from mental retardation, lethargy, poor feeding habits, vomiting, and seizures early in life. The name of this disease comes from its most distinctive symptom, the patient's urine having a burnt-caramel smell.

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

DSM Diagnosis: Include behaviors & symptoms consistent with diagnosis. 259.90 Schizophrenia; deferred; chronic pain; primary and social

When a son is born to his mother, with a dystrophin mutation on one of her two X chromosomes has a chance of inheriting the flawed gene, and also having DMD. As for the daughters,

As stated the only way the a man could ever get this diseases is if their parents sex cell mutated giving the male child more than one x chromosome. It can greatly affect both the person's physical as well as mental state of being. The amount of chromosome can just be up to two or more, 47XXY/48XXXY, and so on.

This stage brings the common symptoms of PWS, or those “food seeking” behaviors. A person will start to feel unsatisfied in their intake of food and not be able to feel full. If not monitored, this will lead to compulsive eating and an extreme weight gain. Along with this, people with PWS have a lower than usual metabolic rate. This requires a restricted amount of calories, something very hard to maintain with this disease. Physical symptoms that occur in stage two deal with the size of the person. An individual with PWS will be much shorter than others around the same age. This includes small hands and feet, which is accompanied by a curving of the back known as scoliosis. Behavioral problems will become clear in this stage through obsessive compulsive symptoms. This may be shown through picking of the skin, hard to control emotions, and tantrums. These problems will then lead to excessive sleepiness or disturbances in sleep patterns. High pain thresholds have been known to appear as a part of stage two (UKS National Institute of Child Health and Human Development,

This article states that although anyone can develop this disease, but that women are more affected than men. As far as ethnicity goes, it is also more common among Asian and Caucasian women, then it is in African-American women. It tends to develop in people that are between the ages of twenty to sixty five. Researchers believe that it is not preventable because it is hereditary. It is also thought that

Mendelian-inherited disorder; Allelic and locus heterogeneity within families lends up to a 50% direct risk of

It is more common in boys than girls, and usually more severe, but anyone can get it. Fragile X Syndrome is the most common genetically inherited disability with affecting around 100000 Australians. Statistically in the world, fragile x syndrome effects 1 in 4000 males and 1 in 8000 females. It is estimated that in Australia, 1 child per

Some studies have found that the level of incidence for ashkenazi jews, Mennonite population and the amish is greater than in the average population. (http://www.annclinlabsci.org/content/41/2/167.full) Detection of the disease is first identified via clinical symptomatology namely: smell of maple syrup in the earwax about 12 hours after birth, irritability or difficulty feeding present two to three days after birth , movements resembling “fencing” or “bicycling” present four to five days after birth, coma or respiratory failure by day seven or ten after birth. To diagnose the disorder within the first couple of days urine could be tests of abnormally large amounts of ketones (day 3-4), the concentration of branched-chain amino acids (BCAAs) and allo-isoleucine can be checked within the first day after the infant had an intake of protein. During BCAA testing leucine levels are most important to note as they will be elevated in MSUD, while isoleucine and valine could be non-specific. Allo-isoleucine is the more definitive indicator of MSUD. (http://www.ncbi.nlm.nih.gov/books/NBK1319/). An increase in leucine leads to a decreased in other amino acids such as: tryptophan, histidine, glutamine, glutamate, alanine, tyrosine. Testing for the levels of these amino acids along with BCAAs could indicate that the infant is

The most commonly identified X-linked mutation of PRPP synthetase causes hyper-activity of the enzyme, leading to increased substrates for purine synthesis which then leads to increased purine production and degradation eventually leading to hyperuricemia and gout. In Von Gierke's disease Glucose-6-phosphatase is deficient causing sever fasting hypoglycemia, glycogen buildup in the liver, blood lactate, triglycerides, increased uric acid and hepatomegaly. Individuals with myeloproliferative or lymphoproliferative disorders can develop uric acid stones as a result of chemotherapy treatment. With dietary purine Intake, for example dried beans ,peas and liver when broken down the purine’s in these foods produce uric acid. In which case excess amounts of uric acid from purine intake can create uric acid Stones. Hyperuricemia or gout can cause UA stones of a uric acid build up. A patient with a high purine diet has increased plasma uric acid levels which create urate crystals that deposit in joints causing gout. There can be two causes for gout the first being under excretion of uric acid which is

Likewise consumption of saffron, alcohol, coffee, tuna fish, and onion can result in telltale scents.

MSUD is a disorder of BCAAs metabolism with a frequency of 1/185,000 live newborns all over the world, while incidence is quite high in Eastern part Pennsylvania as high as 1 in 200(1). It is an autosomal recessive hereditary metabolic disorder is due to defective oxidative decarboxylation of the branched-chain alphaketoacids (BCKAs) derived from transamination of the the BCAAs, valine, leucine and isoleucine. The oxidative decarboxylation of this BCKAs is catalyzed by the branched-chain alphaketoacid dehydrogenase (BCKDH) complex(2). These mutations sub classifies MSUD in MSUD type 1 or MSUD type 2.Traditionally, the metabolic phenotype of MSUD is described classic or intermediate variety on related residual BCKAD enzyme