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
- Unknown Primary Neoplasm Metastasis ‐ Metastases in which the tissue of origin…
- Regional Hospital Plannings ‐ Areawide planning for hospitals or planning of a particular hospital…
- Nerve Lesion, Sciatic ‐ Disease or damage involving the SCIATIC NERVE, which divides…
- Estradiol Antagonists ‐ Compounds which inhibit or antagonize the biosynthesis or action…
- Osteogrycin B ‐ A specific streptogramin group B antibiotic produced by Streptomyces…
- Vascular Stretch Receptor ‐ Receptors in the vascular system, particularly the aorta and…
- HHV-8 ‐ A species in the genus RHADINOVIRUS, subfamily GAMMAHERPESVIRINAE,…
- Rolling Tremors, Pill ‐ Cyclical movement of a body part that can represent either a…
- Thalamic Nuclei ‐ Several groups of nuclei in the thalamus that serve as the major…
- Immunoadsorbents ‐ An insoluble support for an antigen or antibody used to adsorb…