What does IRD mean in HUMAN GENOME
Infantile Refsum disease (IRD) is a relatively rare autosomal recessive genetic disorder. It is caused by deficiency in enzymes required for the breakdown of phytanic acid, resulting in an accumulation of this metabolite within cells. Symptoms include growth retardation, motor and sensory dysfunction, and vision impairment.
IRD meaning in Human Genome in Medical
IRD mostly used in an acronym Human Genome in Category Medical that means Infantile Refsum disease
Shorthand: IRD,
Full Form: Infantile Refsum disease
For more information of "Infantile Refsum disease", see the section below.
» Medical » Human Genome
Essential Questions and Answers on Infantile Refsum disease in "MEDICAL»GENOME"
What causes Infantile Refsum Disease?
Infantile Refsum Disease is caused by deficiencies in enzymes responsible for breaking down phytanic acid, a metabolite found within cells.
What are some common symptoms of IRD?
Common symptoms of IRD include growth retardation, motor and sensory dysfunction, and vision impairment.
Is Infantile Refsum Disease hereditary?
Yes, IRD is an autosomal recessive genetic disorder; both parents must be carriers of the mutation for the child to be afflicted with this condition.
How is Infantile Refsum Disease diagnosed?
Diagnosis of IRD requires a combination of physical examinations and genetic tests.
What treatment options are available for people with IRD?
Treatment options may vary depending on individual needs but are typically focused on managing the symptoms and preventing further complications from occurring or worsening.
Final Words:
While Infantile Refsum Disease can be difficult to diagnose and manage, treatments exist that can help individuals affected by this condition cope with their symptoms and live full lives despite it.
IRD also stands for: |
|
| All stands for IRD |