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Older patients affected with the cerebral form will present with similar symptoms. Untreated, cerebral ALD is characterized by progressive demyelination leading to a vegetative state and death. [2] Adult males with an adrenomyeloneuropathy presentation typically present initially with muscle stiffness, paraparesis and sexual dysfunction. [3]
Symptoms that begin later in childhood, adolescence, or adulthood tend to be milder and usually do not involve heart problems. Episodes of very long-chain acyl-coenzyme A dehydrogenase deficiency can be triggered by periods of fasting, illness, and exercise.
Some specific symptoms vary from one type of leukodystrophy to the next, but the vast majority of symptoms are shared as the causes for the disease generally have the same effects. Symptoms are dependent on the age of onset, which is predominantly in infancy and early childhood, although the exact time of onset may be difficult to determine.
The symptoms of the disorders can vary from every patient. Most symptoms are noticeable at birth. There is often lack in growth and muscle tone as the child develops. Also the disorders involve neurological problems. This would include frequent seizures, delays in intellectual development, and the absence in basic reflexes. [citation needed]
[2] [7] The symptoms of short-chain acyl-CoA dehydrogenase deficiency may be triggered during illnesses such as viral infections. In some cases, signs and symptoms may not appear until adulthood, when some individuals may develop muscle weakness, while other individuals mild symptoms may never be diagnosed.
Symptoms and signs [ edit ] Typically, initial signs and symptoms of this disorder occur during infancy or early childhood and can include feeding difficulties, lethargy , hypoglycemia , hypotonia , liver problems, and abnormalities in the retina .
X-ALD X-linked adrenoleukodystrophy: X-CALD X-linked cerebral adrenoleukodystrophy XDH and AOX dual deficiency Xanthine dehydrogenase and aldehyde oxidase combined deficiency XDH deficiency Xanthine dehydrogenase deficiency XDP X-linked dystonia-parkinsonism XDR TB Extensively drug-resistant tuberculosis: XHED X-linked hypohidrotic ectodermal ...
Fatty-acid metabolism disorders result when both parents of the diagnosed subject are carriers of a defective gene. This is known as an autosomal recessive disorder. Two parts of a recessive gene are required to activate the disease. If only one part of the gene is present then the individual is only a carrier and shows no symptoms of the disease.