Inborn Errors Of Metabolism

The biochemical basis of this disease is related to the metabolism of fat. It is caused by an abnormality in the ABCD1 gene located on the X chromosome. This prevents the production of ALDP which functions as a

This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.

Morquio syndrome is when the metabolism does not have enough or is missing a substance. These molecules are called glycosaminoglycans. When the body does not produce enough enzymes, serious problems can happen. Morquio A is a recessive inherited disease. Most of the time the disease shows up in 2 to 3 year olds.

b) Janine made this statement: “… if your brain doesn’t get carbs—well, glucose, anyway—you get

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.

Maple Syrup Urine Disease is a potently fatal disorder which affects the body’s ability of breaking down three Branched chain amino acids: isoleucine, leucine and valine. The inability of breaking down the three-branched amino acid chain is due to defect in an enzyme called branched chain alpha ketoacid dehydrogenase. Which is the enzyme responsible for breaking down isoleucine, leucine and valine. This will result in high levels of the branched amino acids in plasma and alpha ketoacid in urine. The presence of alpha ketoacid in urine will result in a burned maple syrup odder. Hence the name, Maple syrup urine disease (MSUD).

Symptoms present most frequently in the early neonatal period with the signs and symptoms of hyperammonaemia with a wide range of symptom severity 1, 3, 6. These symptoms include: poor feeding, vomiting without diarrhoea, neurological alteration such as hypotonia, abnormal movement of limbs, irritability, generalised seizures, afterward lethargy, and coma 1, 6. Late forms may present with acute attacks of hyperammonaemia in a previously healthy individual or with chronic neurological, gastrointestinal, and psychiatric clinical signs 1, 15. The symptoms could be chronic nausea, vomiting, ataxia, confusion, and irritability, and in acute cases could lead to coma. The laboratory findings show an increase in blood levels of ammonia and markedly elevated concentrations of glutamine and alanine

This disorder affects one out of every 185,000 babies born worldwide. Also it is found in many countries throughout the world, although the condition is more common in certain ethnic groups. “About one out of every 380 babies from the old order mennonite population is affected by the condition. French- Canadian ancestry and Ashkenazi Jewish ancestry.” (babyfirsttest.org) “In Maple Syrup Urine Disorder the group of enzymes called branched-chain ketoacid dehydrogenase (BCKAD) complex is not working correctly. BCKAD is a group of four enzymes that work together to break down the amino acid leucine.”

Maple syrup urine disease is a disease that effects 1 in 185,00 infants worldwide. It is an autosomal recessive disease which means both parents would need to be either a carrier or have the disease, as seen in the graph from MedlinePlus at the bottom of the page. According to the (U.S. National Library of Medicine,2017) the disease is caused by a mutation in the BCKDHA, BCKDHB, and DBT gene. Which in turn makes the body lack an enzyme called BCKDC. Which is responsible for breaking down the amino acids leucine, isoleucine, and valine. These amino acids are in many types of food most commonly found in protein-rich foods such as meat, milk, and eggs. Where if you eat those kinds of food your body will not be able to break down those amino

Maple syrup urine disease (MSUD) is a genetically inherited disease where the body is unable to process amino acids properly. This particular disease is caused by a defect in your genes. People affected by MSUD has a buildup of these amino acids in their blood. In the most severe state, MSUD causes damage to the brain when stress starts to become a problem; this stress includes: infection, fevers, or not eating for a long period of time. Symptoms of this disease include: coma, feeding difficulties, lethargy, seizures, urine that smells like maple syrup, and vomiting. There are three particular tests that doctors use to check for this disorder. If they feel this rare disease is possibly the problem, they will use one of the following tests:

For the genetic abnormality at the root of this disease, it is an X-linked inborn error of the glycosphingolipid metabolic pathway. Typically it is an X linked inheritance pattern that is neither recessive or dominant, and is x linked in this family history as well. The metabolic defect is in in the lysosomal hydrolase alpha-galactosidase A (alpha-Gal A), which catalyzes the hydrolytic cleavage of the terminal galactose from globotriaosylceramide (Gb3). This results in accumulation of globotriaosylceramide within lysosomes in cells, in the vascular

Currently every state test newborns for phenylketonuria, and congenital hypothyroidism (U.S. National Library of Medicine). Phenylketonuria, or PKU, is a very rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. Caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine, left undiagnosed and untreated, this disease leaves many complications for affected (Mayo Clinic). Due to prenatal testing, those affected by PKU are able to alter their diet early on so that the disease will not inhibit them. Congenital hypothyroidism is a type of inherited disease where the thyroid is unable to produce important hormones, when diagnosed early, doctors are able to give doses of those critical hormones and those affected individuals are able to function normally (Mayo

The diagnosis may also be suggested by ventriculomegaly (surplus of fluid in the lateral ventricles within the developing brain) and increased subarachnoid space. Some forms of the disease are also associated with microcephaly, which is another feature that can be easily detected during the final three months of

ADA is a part of the purine salvage pathway which functions to rid the cells of deoxyadenosine. Adenosine deaminase is considered a critical enzyme that consists of a 12 exon, 32 kb gene located on chromosome 20q13-q13.1, is a 42 kDa protein with 363 amino acid. Adenosine deaminase produces the irreversible deamination of adenosine (Ado) and deoxyadenosine (dAdo). The enzyme Ado is further converted to inosine and and the enzyme dAdo is converted to non-toxic molecule 2’-deoxyinosine. Most adenosine responsible for breaking down adenosine 5 '-triphosphate (ATP) and the degradation of ribonucleic acid (RNA).The lack of the ADA enzyme leads to the pathway become inactive and the build up in the amount of adenosine in the

Maple syrup urine disease or MSUD is a genetically inherited disease, characterized by a maple syrup odor found in the sweat, urine and earwax of affected individuals. Maple syrup urine disease was first documented in medical literature in 1954 by John Hans Menkes, a pediatric neurologist who would also discover Menkes Disease. People with maple syrup urine disease lack specific enzymes required to metabolize certain amino acids. Maple syrup urine disease is also commonly known as BCKD deficiency, Branched Chain Alpha-Ketoacid Dehydrogenase Deficiency, Branched Chain Ketonuria I, Classical Maple Syrup Urine Disease or MSUD. There are several subtypes of MSUD each with varying levels of severity and symptoms. MSUD is inherited which makes prevention impossible, management relies on early detection and attempting to prevent acute episodes. This paper will cover the pathophysiology, subtypes, symptoms, genetics, rarity, and treatment for MSUD.