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
- Premature Atrial Contraction ‐ Premature contractions of the heart arising from an ectopic atrial…
- Recovery Rooms ‐ Hospital unit providing continuous monitoring of the patient…
- Study, Cohort ‐ Studies in which subsets of a defined population are identified.…
- Frog, Green ‐ An edible species of the family Ranidae, occurring in Europe…
- Leukodystrophies, Spongiform ‐ A rare neurodegenerative condition of infancy or childhood characterized…
- Allergen Challenges, Bronchial ‐ Tests involving inhalation of allergens (nebulized or in dust…
- Apex Cardiographies ‐ The graphic recording of chest wall movement due to cardiac…
- Occupational Health Nursing ‐ The practice of nursing in the work…
- Minimally Conscious States ‐ Vegetative state refers to the neurocognitive status of individuals…
- Deficiency, Argininosuccinic Acid Synthetase, Partial ‐ A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE…