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Doctor insights on: Mucolipidoses

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Dr. Kevin Crutchfield
19 doctors shared insights

Mucolipidoses (Overview)

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


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Glycolipids, phospholipds, cholesterol molecules, protiens, what are these?

May I suggest: That you pick up a good biochemistry text - you're clearly interested. You'll enjoy it! ...Read more

Dr. Kevin Crutchfield
19 doctors shared insights

Mucolipidoses (Overview)

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


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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

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Can polyglycoplex (pgx) help fight metabolic syndrome?

Can polyglycoplex (pgx) help fight metabolic syndrome?

Maybe-fiber-fuller!: Pgx or polyglcoplex is a one-of-a-kind complex of water-soluble polysaccharides or plant fibers developed using a patented technology. It is marketed as a weight loss and regular dietary supplement that fosters healthy blood sugar levels, curbs hunger, and minimizes unwanted weight gain. T is recommended to take some pgx before every meal with at list 8 ounces of water per 2.5 gram serving. ...Read more

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Which combination of amino acids produce dystrophin gene?

Which combination of amino acids produce dystrophin gene?

DNA: Genes are made up of nucleic acids called DNA. Those genes are then transcribed into amino acid sequences called proteins. The dystrophin gene is much too large to spell out in a DNA sequence, and its protein is much too large to spell out in an amino acid sequence. Here is a link to some more information on the gene. http://www.ncbi.nlm.nih.gov/gene/1756 ...Read more

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Trypsin and insulin both hormones?

Trypsin and insulin both hormones?

Different: Trypsin is an enzyme and is part of the digestive process. Insulin is a hormone which is secreted by the pancreas and circulates throughout the body. ...Read more

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Which tests diagnose hyaline membrane disease?

Which tests diagnose hyaline membrane disease?

Chest xrays: Hyaline membrane disease or "respiratory distress syndrome" is a condition usually affecting children who are born before term. Lack of a lung chemical called surfactant causes it. It has a typical look on chest xray, so nursery and radiology doctors usually make the dianosis by the xray and the prematurity of the child. It is also possible to do special tests to measure surfactant in the lungs. ...Read more

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Which blood tests detect viruses/infectious diseases?

Which blood tests detect viruses/infectious diseases?

CulturesTcellsAntibo: 1 Bacterial,Viral and Fungi Cultures 2Antibodies and quantitative Titers,IGG&IGM 3 T Helper Cells Count as is done in AIDS Cases 4 Blood Smear for Parasites like in Malaria 5 Viral Load Test by PCR 6 Antigen as in the case of Hepatitis B.Hep B Surface Antigen is used for screening of Hepatitis B 7 Interferon-Gamma release assay test for TB Infection which measures the immune responce to the TB Inf ...Read more

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Can autoantibodies against glutamine synthetase and/or glutamate dehydrogenase cause glutamate metabolism disorders?

Can autoantibodies against glutamine synthetase and/or glutamate dehydrogenase cause glutamate metabolism disorders?

Still searching: Glutamine synthase is part of the glutamine synthetase family. Ammonia incorporation in animals occurs through the actions of glutamate dehydrogenase and glutamine synthase. Glutamate plays the central role in mammalian nitrogen flow, serving as both a nitrogen donor and nitrogen acceptor. I am unble to find references in my search so far as to autoantibodies to these but see comment. ...Read more

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On which chromosome is the genetic disorder myofibrillar myopathy?

On which chromosome is the genetic disorder myofibrillar myopathy?

80% not identified: Here is a good link to get more information about this condition. http://www.ncbi.nlm.nih.gov/books/nbk1499/ they have identified a number of genes that contribute to that condition. If the gene causing mutation has been established then genetic counseling may help with prenatal testing. We have established some of the genes involved but only 20% of cases have a genetic basis identified. ...Read more

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Are mitochondrial diseases considered metabolic disorders?

Are mitochondrial diseases considered metabolic disorders?

No: no, mitochondrial diseases related to certain internal cellular issues and their discombobulation's. Metabolic diseases include for the most part diabetes, obesity, Dysmetabolic syndrome, which are a separate type of disease process than internal internal cellular constituents such as mitochondria ...Read more

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Which one of these enzymes are in gastric juices: amylase, protease, trypsin?

Which one of these enzymes are in gastric juices: amylase, protease, trypsin?

Trypsin: Protease is a general term of any enzyme that breaks down proteins and includes, trypsin, and chymotrypsin. ...Read more

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Is lipoprotein associated phospholipase a2 blood test better predictor of heart disease, heart attacks and stokes than myeloperoxidase (mpo) in men?

Is lipoprotein associated phospholipase a2 blood test better predictor of heart disease, heart attacks and stokes than myeloperoxidase (mpo) in men?

No, Different Issues: Mpo tends to reflect more active/prone to rupture vulnerable plaque activity, whereas lpla2 a protein on LDL particles which correlates with ?ed atherogenicity. Keep in mind artery ds typically begins age 7, ; earlier. Measured ldl, large hdl, hba1c ; BP are bigger issues. Many other biomarkers, like the ones you mentioned, also involved ; less important. Illusions of high tech often marketed. ...Read more

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