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Doctor insights on: Mucolipidosis Type Iv Mutation

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Are there different options for treating mucolipidoses?

Are there different options for treating mucolipidoses?

Inborn errors: Complications of the mucopolysaccharidoses (mps) can be widespread, affecting the respiratory, cardiac, skeletal and connective tissue, and nervous systems. Most treatments for mps are symptomatic and cannot prevent the eventual decline in function. However, specific therapies, such as hematopoietic stem cell transplantation or enzyme replacement, may alter the natural history of these diseases. ...Read more

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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Are there different options for treating mucolipidoses?

Inborn errors: Complications of the mucopolysaccharidoses (mps) can be widespread, affecting the respiratory, cardiac, skeletal and connective tissue, and nervous systems. Most treatments for mps are symptomatic and cannot prevent the eventual decline in function. However, specific therapies, such as hematopoietic stem cell transplantation or enzyme replacement, may alter the natural history of these diseases. ...Read more

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What is the definition or description of: Mucolipidoses?

What is the definition or description of: Mucolipidoses?

Mucolipidosis: A group of genetic metabolic disorders. Body is unable to process the turnover of various cell components. Includes both mucopolysaccharidoses and sphingolipidosis. ...Read more

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Which type of mutation causes down syndrome?

Which type of mutation causes down syndrome?

Trisomy 21: Down syndrome is also called trisomy 21. That means that there is a partial or complete third copy of the chromosome 21. It is the most common chromosomal abnormality. ...Read more

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Living with Type 1 Diabetes (Checklist)

Hypoglycemia is common with type 1 diabetes
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Check your blood glucose before and after 2 hours after eating
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Hypoglycemia is likely if the post meal glucose is lower than premeal
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If you do not feel hypo symptoms, consider use of a continuous sensor
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What type of mutation causes alagille syndrome?

What type of mutation causes alagille syndrome?

Autosomal dominant: Alagille syndrome has an autsomal dominant genetic inheritance pattern. It is rare, however, and affects the heart and liver primarily. In 90% of cases, mutations on chromosome 20 that affect the JAG1 gene causes this syndrome. A few people have mutations in a gene called NOTCH2. Defects in these genes are thought to lead to abnormal embryonic development in the affected organs. ...Read more

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What type of mutation causes dementia with lewd bodies?

What type of mutation causes dementia with lewd bodies?

Allele, not a mutant: It's not well understood, but often appears in those w/ Parkinson's, so a link with the PARK11 gene has been studied. Like Alzheimer's or Parkinson's, most cases since not all end up w/ it LBD is not thought to be strongly inheredited. Yet LBD risk is heightened w/ inheritance of an allele. Info here: https://en.wikipedia.org/wiki/Dementia_with_Lewy_bodies ...Read more

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What type of mutation causes thalassemia minor?

Many: Many mutations in beta-thal genes will cause a decreased production, rather than an absence of production. Inheritance of one f these genes will cause a thalassemia minor. In alpha-thalassemia, the inheritance of two mutations (out of four genes) can provide mild or no symptoms that are typical of thalassemia minor. ...Read more

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What type of mutation causes barth syndrome?

X-linked mutation: Barth syndrome, also known as 3-methylglutaconic aciduria type II (MGCA2), is caused by mutation in the tafazzin gene (TAZ) on chromosome Xq28. Each boy born to a carrier mother has a 50% chance of having it. Each daughter of a carrier mother has a 50% chance of being a carrier. All daughters of men with Barth Syndrome are carriers. https://www.barthsyndrome.org/home has information & resources. ...Read more

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What type of mutation is canavan disease?

What type of mutation is canavan disease?

Mutation of gene: More than 55 mutations in the aspa gene are known to cause canavan disease. Mutations in the aspa gene reduce or eliminate the activity of aspartoacylase, which interfers with maintaining the brain's white matter, which consists of nerve fibers covered by myelin. Nerve fibers without this protective covering malfunction and die, damaging the brain and causing canavan disease. ...Read more

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Please suggest what type of mutation occurs in pku?

PKU is inherited by : autosomal recessive transmission. Both parents carry a mutation of a gene on the long arm of Chromosome 12, causing deficiency of the enzyme phenylalanine hydroxylase in a child who inherits both mutant genes. The child is unable to use an amino acid called Phenylanine. Excess Phenylalanine from dietary protein is toxic to the brain.See http://www.npkua.org/Education/AboutPKU.aspx ...Read more

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Which type of chromosomal mutation causes down syndrome?

Which type of chromosomal mutation causes down syndrome?

Not mutation,number : Down syndrome is an abnormality of chromosome numbers, not a trait or mutation in the gene code. During conception only one of chromosome of each pair is given by both parents to the fertile egg.If a parent adds their 2 nbr 21chm to the other parents nbr 21, 3 end up in the egg ; the excess 21 causes the all the problems.Rare forms are causes by a extra piece of a 21, but that's another issue. ...Read more

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What type of mutations that cause hemophilia a?

What type of mutations that cause hemophilia a?

Gene on X-chromosome: Hemophilia a is a hereditary bleeding disorder where there is a deficiency in clotting factor viii (factor viii is needed for blood clotting). It is inherited on the x-chromosome (sex-linked). Men only have 1 "x", so if their "x" is mutated, they will have the disease. Women have 2 "x's", so they can have 1 mutated "x" and 1 normal "x", and be a carrier of the disease, with mild or no symptoms. ...Read more

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What type of mutation occurs in patients with pku?

What type of mutation occurs in patients with pku?

Autosomal recessive: The gene defect is carried by both asymptomatic parents who have one normal gene to make up for their defective one. When 2 defective genes end up in their baby the cells do not have the code needed to use phenylalanine. Toxic products build up in babies blood unless phenylalanine is removed from their diet. ...Read more

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What type of mutation would convert a proto-oncogene into an oncogene?

Activating mutation: A protooncogene refers to a normal gene that can become oncogenic if it is overactive. There are many different types of activating mutations. ...Read more

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What type of genetic mutation causes albinism?

What type of genetic mutation causes albinism?

Albinism: There are several. Go to wikipedia and https://www.ncbi.nlm.nih.gov/pubmed/ ...Read more

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Need expert help. Can someone carry more than one type of genetic mutation?

Need expert help. Can someone carry more than one type of genetic mutation?

Yes: The draft sequence of the human genome project has suggested that we may all be carriers of 4-10 different disorders. Individuals can have a variety of genetic alterations within single genes, multiple genes and in non-coding areas of the genome. Some disorders are a consequences of having different genetic mutations that result in loss of genetic function resulting in disease ...Read more

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Please tell me, could someone carry more than one type of genetic mutation?

Please tell me, could someone carry more than one type of genetic mutation?

Yes: Yes, you can have more than one genetic mutation. Most mutations do not cause significant or even visible problems. However you can have multiple serious genetic mutations. ...Read more

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Is hereditary angioedema type III a genetic mutation?

The big unknown: This is a big unknown question, some people have a mutation that can cause type iii and others have an unkown kind that responds to treatments of hae. ...Read more

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Dr. Kevin Crutchfield
19 doctors shared insights

Mucolipidoses (Definition)

A group of genetic metabolic disorders. Body is unable to process the turnover of various cell components. Includes ...Read more