About The Medical Condition Dystrophy, Oculocerebrorenal
Find the definition of the medical term Dystrophy, Oculocerebrorenal. Dystrophy, Oculocerebrorenal defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Dystrophy, Oculocerebrorenal
| Dystrophy, Oculocerebrorenal Medical Condition |
|---|
What's The Definition Of The Medical Condition Dystrophy, Oculocerebrorenal?
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
- Annular Groove ‐ A disorder present in the newborn infant in which constriction…
- Monograph (PT) ‐ In cataloging, any publication that is not a serial. It is usually…
- Associated Fibril-Protein, Scrapie ‐ Protease-resistant core of PrPSC, the abnormal isoform of prion…
- Germ Layers ‐ The three layers of cells comprising the…
- Uroporphyrinogen Synthetase ‐ An enzyme that catalyzes the formation of hydroxymethylbilane…
- Deficiency Disease Hexosaminidase A ‐ An autosomal recessive inherited gangliosidosis characterized…
- Pharmacy Education, Continuing ‐ Educational programs designed to inform graduate pharmacists…
- Organisms, GMO ‐ Organisms whose GENOME has been changed by a GENETIC ENGINEERING…
- Lyase, Chondroitin Sulfate ‐ Enzymes which catalyze the elimination of delta-4,5-D-glucuronate…
- Induced Hypothermia ‐ Abnormally low body temperature intentionally induced in warm-blooded…