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The other two disorders are neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). [5] [6] Although all have a similar molecular basis for disease, Zellweger syndrome is the most severe of these three disorders. [7] Zellweger syndrome is associated with impaired neuronal migration, neuronal positioning, and brain development. [4]
Zellweger spectrum disorders are a group of autosomal recessive genetic disorders. They are caused due to pathogenic mutations in at least 13 different PEX genes that encode peroxins. [5] It affects the peroxisomes, which are organelles in the body that are meant to breakdown items like acids and toxic compounds. Both parents will have to have ...
Multiple sulfatase deficiency (MSD), also known as Austin disease, [1] or mucosulfatidosis, [1] is a very rare autosomal recessive [2] lysosomal storage disease [3] caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, which activates sulfatases.
[10] [12] All patients should remain on blood thinner medication for at least 6 months and up to a year unless the patient had a stroke in which they would always be on blood thinners. [10] [12] Patients with coronary artery disease or pulmonary hypertension will take additional medicines described by their physician. For patients who had heart ...
The term childhood disease refers to disease that is contracted or becomes symptomatic before the age of 18 or 21 years old. Many of these diseases can also be contracted by adults. Some childhood diseases include:
This destruction of red blood cells is called hemolysis. [6] Red blood cell breakdown may be triggered by infections, certain medication, stress, or foods such as fava beans. [1] [3] Depending on the specific mutation the severity of the condition may vary. [2] Diagnosis is based on symptoms and supported by blood tests and genetic testing. [2]
CD55 deficiency, also called DAF deficiency or CHAPLE syndrome, is a rare genetic disorder of the immune system. CHAPLE stands for "CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and severe protein-losing enteropathy (PLE)." [1] The disorder usually manifests in childhood and can be life-threatening. This condition ...
Individuals with TEC have a median age of presentation of 18–26 months; however, the disorder may occur in infants younger than 6 months and in children as old as age 10 years. Because of the gradual onset of the anemia, children are often healthier than expected from their low hemoglobin levels. [citation needed]