Search results
Results from the WOW.Com Content Network
Methylenetetrahydrofolate reductase deficiency is the most common genetic cause of elevated serum levels of homocysteine (hyperhomocysteinemia). It is caused by genetic defects in MTHFR, which is an important enzyme in the methyl cycle. [1] Common variants of MTHFR deficiency are asymptomatic and have only minor effects on disease risk. [2]
Methylenetetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. [5] Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate , a cosubstrate for homocysteine remethylation to methionine .
If the template has a separate documentation page (usually called "Template:template name/doc"), add [[Category:Medical symptoms and signs templates]] to the <includeonly> section at the bottom of that page. Otherwise, add <noinclude>[[Category:Medical symptoms and signs templates]]</noinclude>
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
The signs and symptoms of this disorder appear at an early age, generally childhood or adolescence. The causes of MERRF syndrome are difficult to determine, but because it is a mitochondrial disorder, it can be caused by the mutation of nuclear DNA or mitochondrial DNA . [ 3 ]
Assess the patient to determine if other signs and symptoms are present: flushed face, hot, dry skin, low output, concentrated urine, anorexia, constipation, diarrhea, or vomiting. Older children may complain of sore throat, headaches, aching, and nausea, as well as, other symptoms. [17] Pulse should be checked at distal and proximal sites.
The symptoms of inattention, hyperactivity and impulsivity mean people with ADHD may have trouble staying organized, concentrating, managing time or controlling impulses, which can affect all ...
To change this template's initial visibility, the |state= parameter may be used: {{Nervous system symptoms and signs | state = collapsed}} will show the template collapsed, i.e. hidden apart from its title bar. {{Nervous system symptoms and signs | state = expanded}} will show the template expanded, i.e. fully visible.