About The Medical Condition Oculocerebrorenal Dystrophies
Find the definition of the medical term Oculocerebrorenal Dystrophies. Oculocerebrorenal Dystrophies defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Oculocerebrorenal Dystrophies
Oculocerebrorenal Dystrophies Medical Condition |
---|
What's The Definition Of The Medical Condition Oculocerebrorenal Dystrophies?
A sex-linked recessive disorder of amino acid transport which affects the EYE; NERVOUS SYSTEM; and KIDNEY. Clinical manifestations include CATARACT; GLAUCOMA; developmental delay (which eventually leads to profound cognitive deficits); myopathy; peripheral neuropathy; and hypotonia. There is an associated generalized aminoaciduria of the FANCONI SYNDROME type; renal tubular acidosis (ADIDOSIS, RENAL TUBULAR); and hypophosphatemic RICKETS. This condition has been associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase. (Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Hormone, LHFSH Releasing ‐ A decapeptide hormone released by the hypothalamus. It stimulates…
- Sphincteroplasties, Transduodenal ‐ Surgery of the smooth muscle sphincter of the hepatopancreatic…
- Joint Revision ‐ A repeat operation for the same condition in the same patient…
- Lichen Simplex Chronicus ‐ An extremely variable eczematous skin disease that is presumed…
- Drosophila melanogaster ‐ A species of fruit fly much used in genetics because of the large…
- Biphenyldiamines ‐ Very toxic industrial chemicals. They are absorbed through the…
- Sleep Disorder, Intrinsic ‐ Dyssomnias (i.e., insomnias or hypersomnias) associated with…
- Hemolytic Anemias, Hereditary ‐ Hemolytic anemia due to various intrinsic defects of the…
- Staff Workloads ‐ The total amount of work to be performed by an individual, a…
- Hornets ‐ Any of numerous winged hymenopterous insects of social as well…