About The Medical Condition Renal-Oculocerebrodystrophy
Find the definition of the medical term Renal-Oculocerebrodystrophy. Renal-Oculocerebrodystrophy defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Renal-Oculocerebrodystrophy
| Renal-Oculocerebrodystrophy Medical Condition |
|---|
What's The Definition Of The Medical Condition Renal-Oculocerebrodystrophy?
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
- Genes, Growth Suppressor ‐ Genes that inhibit expression of the tumorigenic phenotype. They…
- Spontaneous Remissions ‐ A spontaneous diminution or abatement of the symptoms of…
- Leak Potassium Channel ‐ Potassium channels that contain two pores in tandem. They are…
- Lotrimin ‐ An imidazole derivative with a broad spectrum of antimycotic…
- Hazard Surveillance Programs ‐ The development of systems to prevent accidents, injuries, and…
- Ventral Anterior Nucleus ‐ A large group of nuclei lying between the internal medullary…
- Biomodulators ‐ Biological or synthetic agents that are capable of eliciting…
- Oxytryptophan ‐ Precursor of serotonin used as antiepileptic and…
- Gallstone ‐ Presence or formation of…
- Heterotypic Antibodies ‐ Antibodies elicited in a different species from which the antigen…