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Over 30 different disorders of fat metabolism are related to genetic defects.

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14y ago

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Why are most genetic defects related to enzyme function recessive disorders?

Most genetic defects related to enzyme function are recessive because most are lethal and can only persist because heterozygote carriers can live to reproduce.


What are some disorders of nucleic acids?

Some disorders of nucleic acids include: Genetic disorders caused by mutations in DNA such as cystic fibrosis, Huntington's disease, and sickle cell anemia. RNA-related disorders like myotonic dystrophy and fragile X syndrome, which are caused by abnormal expansion of nucleotide repeats in the gene. Defects in enzymes involved in nucleic acid metabolism can lead to disorders like Lesch-Nyhan syndrome or SCID (severe combined immunodeficiency).


Why does inbreeding cause birth defects?

Inbreeding increases the likelihood of birth defects because it can lead to the expression of harmful recessive genes that are more likely to be passed down when closely related individuals reproduce. This can result in a higher chance of genetic disorders and abnormalities in offspring.


What are congenital myasthenic syndromes?

Congenital myasthenic syndromes are a group of related disorders caused by inherited defects in the acetylcholine receptor.


What are some common pedigree problems and how can they be addressed effectively?

Common pedigree problems include inbreeding, genetic disorders, and lack of genetic diversity. These issues can be addressed effectively by implementing breeding programs that prioritize genetic diversity, conducting genetic testing to identify carriers of genetic disorders, and avoiding mating closely related individuals to reduce the risk of inherited diseases.


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what is the risk of deformity or downs syndrome in brother and sister conceive a baby?

The risk of deformity or Down syndrome in a baby conceived by a brother and sister (consanguineous relationship) is higher compared to unrelated parents. This is due to the increased likelihood of sharing similar genetic mutations, which can increase the risk of genetic disorders. The risks include: Autosomal recessive disorders (e.g., cystic fibrosis, sickle cell anemia) Autosomal dominant disorders (e.g., achondroplasia, Huntington's disease) Chromosomal abnormalities (e.g., Down syndrome, Turner syndrome) Congenital anomalies (e.g., heart defects, cleft palate) The exact risk depends on the degree of consanguinity (how closely related the parents are) and the specific genetic disorders in the family. For first cousins (once removed), the risk of birth defects is around 4-6%. For full siblings (brother and sister), the risk is higher, around 10-15%. It's important to note that the majority of children born to consanguineous parents are healthy, and many genetic disorders can occur in unrelated parents as well. If you have concerns, consult a genetic counselor or a medical professional for personalized advice.


Is pervasive developmental disorder genetic?

Yes, pervasive developmental disorders, including autism spectrum disorders, have a genetic component. Research has shown that individuals with a family history of autism or related conditions are at an increased risk of developing these disorders. However, genetics are just one factor, and environmental influences also play a role in the development of pervasive developmental disorders.


In breeding closely related animals and genetic problems?

In breeding closely related animals increases the risk of genetic problems due to the lack of genetic diversity. This can lead to an increased likelihood of inheriting harmful genetic mutations and an increased prevalence of genetic disorders in the population. It is important to carefully consider genetic diversity and potential health issues when breeding closely related animals.


What has the author Thomas J Merimee written?

Thomas J. Merimee has written: 'Isolated human growth hormone deficiency and related disorders' -- subject(s): Dwarfism, Pituitary, Growth disorders, Metabolism, Pituitary Dwarfism, Somatotropin