About The Medical Condition Lowe-Terrey-MacLachlan Syndrome
Find the definition of the medical term Lowe-Terrey-MacLachlan Syndrome. Lowe-Terrey-MacLachlan Syndrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Lowe-Terrey-MacLachlan Syndrome
| Lowe-Terrey-MacLachlan Syndrome Medical Condition |
|---|
What's The Definition Of The Medical Condition Lowe-Terrey-MacLachlan Syndrome?
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
- Computer-Assisted Drug Therapy ‐ Adjunctive computer programs in providing drug treatment to…
- Tc-99m-Diethyl IDA ‐ A nontoxic radiopharmaceutical that is used in the clinical evaluation…
- Oncogene Protein src ‐ A tyrosine-specific protein kinase encoded by the v-src oncogene…
- Drugs, Investigational New ‐ Drugs which have received FDA approval for human testing but…
- Bepridil Monohydrochloride ‐ A long-acting calcium-blocking agent with significant anti-anginal…
- Insufficiencies, Kidney ‐ The inability of a kidney to excrete metabolites at normal plasma…
- Polyester, Pentosane Sulfuric ‐ A sulfated pentosyl polysaccharide with heparin-like…
- Chondroitinsulfatases ‐ A group of enzymes that catalyze the hydrolysis of various sulfate…
- Assassin Bug ‐ A family of winged insects of the suborder HETEROPTERA, called…
- Mesozoas ‐ Animals that have no…