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
- Uridine Phosphorylase ‐ An enzyme that catalyzes the transfer of ribose from uridine…
- Disease, Talfan ‐ A picornavirus infection producing symptoms similar to poliomyelitis…
- Metatarsal Bones ‐ The five long bones of the METATARSUS articulating with the TARSAL…
- Disorder, Posttraumatic Stress ‐ Anxiety disorders manifested by the development of characteristic…
- Dimethylphenylene Bis-Thioallophanate ‐ Nematocide used in livestock; also has fungicidal…
- Blood Platelet Count ‐ A count of the number of platelets per unit volume in a sample…
- Arthrogryposis ‐ Persistent flexure or contracture of a joint. (Dorland, 27th…
- Carboxypeptidase, Enkephalin Dipeptidyl ‐ Enzyme that is a major constituent of kidney brush-border membranes…
- Device Expulsions, Intrauterine ‐ Spontaneous loss of intrauterine devices from…
- Lateral Ligament, Ankle ‐ There are two lateral ligaments of the ankle - internal and external.…