Acytosiosis is a rare

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...

Symptoms and signs

Because of the complete lack of

cytosine Cytosine () ( symbol C or Cyt) is one of the four nucleobases found in DNA and RNA, along with adenine, guanine, and thymine (uracil in RNA). It is a pyrimidine derivative, with a heterocyclic aromatic ring and two substituents attached (an am ...

due to the defective Alpha-cytosinase,

DNA replication In molecular biology, DNA replication is the biological process of producing two identical replicas of DNA from one original DNA molecule. DNA replication occurs in all living organisms acting as the most essential part for biological inheritanc ...

cannot occur. This means that any

zygote A zygote (, ) is a eukaryotic cell formed by a fertilization event between two gametes. The zygote's genome is a combination of the DNA in each gamete, and contains all of the genetic information of a new individual organism. In multicellula ...

with Acytosiosis will be unable to divide into multiple cells and will thus die. In most cases, the mother won't even know that she would have had a baby if it hadn't died from Acytosiosis.

Causes

Acytosiosis is caused by an autosomal

recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

mutation on Chromosome 9, which causes a defect in the

enzyme Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. A ...

Alpha-cytosinase.Wynbrandt, James and Ludman, Mark ''The Encyclopedia of Genetic Disorders and Birth Defects'' (Facts on File 2000)

Diagnosis

Treatment

Etymology

The name "Acytosiosis" comes from a combination of the

prefix A prefix is an affix which is placed before the Word stem, stem of a word. Adding it to the beginning of one word changes it into another word. For example, when the prefix ''un-'' is added to the word ''happy'', it creates the word ''unhappy'' ...

"a-", meaning "no" or "none", "

", and the

suffix In linguistics, a suffix is an affix which is placed after the stem of a word. Common examples are case endings, which indicate the grammatical case of nouns, adjectives, and verb endings, which form the conjugation of verbs. Suffixes can carry ...

"-iosis", meaning "disorder".

References

{{Medicine, state=collapsed Genetic disorders with no OMIM