What is gfpd

They are also required for normal eye, liver, kidney, and bone functions. Zellweger spectrum disorders result from dysfunctional lipid metabolism, including the over-accumulation of very long-chain fatty acids and phytanic acid, and defects of bile acids and plasmalogens—specialized lipids found in cell membranes and myelin sheaths of nerve fibers. Symptoms of these disorders include an enlarged liver; characteristic facial features such as a high forehead, underdeveloped eyebrow ridges, and wide-set eyes; and neurological abnormalities such as cognitive impairment and seizures.

Infants will Zellweger syndrome also lack muscle tone, sometimes to the point of being unable to move, and may not be able to suck or swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur. There is no cure for Zellweger syndrome, nor is there a standard course of treatment.

Since the metabolic and neurological abnormalities that cause the symptoms of Zellweger syndrome are caused during fetal development, treatments to correct these abnormalities after birth are limited. They are also important for the production of fats lipids used in digestion and in the nervous system. Peroxins assist in the formation biogenesis of peroxisomes by producing the membrane that separates the peroxisome from the rest of the cell and by importing enzymes into the peroxisome.

Variants in the genes that cause Zellweger spectrum disorder prevent peroxisomes from forming normally. Diseases that disrupt the formation of peroxisomes, including Zellweger spectrum disorder, are called peroxisome biogenesis disorders. If the production of peroxisomes is altered, these structures cannot perform their usual functions. The signs and symptoms of severe Zellweger spectrum disorder are due to the absence of functional peroxisomes within cells.

Intermediate and mild Zellweger spectrum disorder are caused by variants that allow some peroxisomes to form. Variants in the PEX1 gene are the most common cause of Zellweger spectrum disorder and are found in nearly 70 percent of affected individuals. The other genes associated with Zellweger spectrum disorder each account for a smaller percentage of cases of this condition.

This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Genetics Home Reference has merged with MedlinePlus. Learn more. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. Zellweger spectrum disorder.

From Genetics Home Reference. Description Zellweger spectrum disorder is a condition that affects many parts of the body. Frequency Zellweger spectrum disorder is estimated to occur in 1 in 50, individuals. Symptoms usually start in a person's 20s but may not start until later. Doctors diagnose Refsum disease by testing the blood to determine whether the level of phytanic acid is elevated. Treatment of Refsum disease involves avoiding eating foods that contain phytanic acid, including dairy products, beef and lamb, and fatty fish such as tuna, cod, and haddock.

Plasmapheresis, in which phytanic acid is removed from the blood, may be helpful. Symptoms of rhizomelic chondrodysplasia punctata begin in infancy and include a sunken appearance of the middle of the face, strikingly short limbs, a prominent forehead, small nostrils, cataracts, scaling and flaking of the skin ichthyosis Ichthyosis Ichthyosis is scaling and flaking of the skin that ranges from mild but annoying dryness to severe and disfiguring skin disease.

See also Itching and Dry Skin Xeroderma. Ichthyosis is a Defects of the spine are also common. There is no effective treatment for rhizomelic chondrodysplasia punctata. However, infants who have high blood levels of phytanic acid should consume foods low in phytanic acid. From developing new therapies that treat and prevent disease to helping people in need, we are committed to improving health and well-being around the world.

The Merck Manual was first published in as a service to the community. Learn more about our commitment to Global Medical Knowledge. This site complies with the HONcode standard for trustworthy health information: verify here. Common Health Topics. Commonly searched drugs. X-linked adrenoleukodystrophy. Refsum disease. Rhizomelic chondrodysplasia punctata.

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