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Chemistry, Jan 2009
MEDLAB Program
24
Chemistry
Not Applicable
01/15/2009

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Cards

Term
Cystinuria
Definition
Amino acid crystalizes in the urine.
Term
Cystinosis
Definition
Cystine crystals are deposited in the kidneys, eyes, bone marrow, liver, spleen and macrophages.
Term
Cystinosis
Definition
A lysosomal stroage disorder, thought to result from a defect in the transport process for the passage of cystine crystals across lysosomal membranes.
Term
Cystinosis - Nephropathic Infant Onset
Definition
Neurologic deficits, failure to thrive, photophobia, rickets, acidosis, generalized renal dysfunction - Fanconi syndrome can surface.
Term
Cystinosis - Intermediate or Adolescent Onset
Definition
Like Nephropathic Infant Onset, but less severe kidney damage and Fanconi syndrome does not usually surface.
Term
Cystinosis - Benign Adult Onset
Definition
Results in cystine crystals deposited in the cornea, leukocytes and bone marrow.
Term
Hartnup Syndrome
Definition
General aminoacidurias, excretion of alanine, threonine, glutamine, serine.. etc. Patients experience delusions, tremor, and a red, scaly rash that appears during the first decade of life.
Term
Hartnup Syndrome
Definition
Red Rash - due to nicotinamide deficiency that results when tryptophan is malabsorbed.
Term
Albinism Type I
Definition
Condition due to the absence of tyrosinase, the enzyme that converts tyrosine to melanin.
Term
Albinism Type II
Definition
Condition due to a deficiency of tyrosinase, which inhibits melanin production.
Term
Secondary Aminoaciduria
Definition
Due to a defect in the renal tubular transport mechanism, may be due to kidney disease, liver disease or starvation.
Term
Primary Aminoaciduria
Definition
Results from an enzyme defect in the pathway by which a specific amino acid is metabolized.
Term
Fanconi Syndrome
Definition
The proximal tubular function of the kidney is impaired, and cannot reabsorb electrolytes and nitrients properly.
Term
Fanconi Syndrome Type 2 or Proximal Renal Tubular Acidosis
Definition
Reduced reabsorption of bicarbonate, causes rickets(children), osteomalacia(adults), growth failure, acidosis, etc.
Term
Recognized causes of Fanconi Syndrome
Definition
Wilson's disease, Lowe Syndrome, Tyrosinemia Type I, galactosemia, glycogen storage diseases, fructose intolerance, ingesting expired tetracyclines, side effect of tenofovir.
Term
Isovaleric Acidemia
Definition
An autosomal metabolic disorder, it disrupts or prevents normal metabolism of the amino acid leucine.
Term
Isovaleric Acidemia
Definition
Characterized by "Sweaty Feet". In infants, vomiting, seizures,lack of energy, progression to coma.
Term
Isovaleric Acidemia
Definition
Often triggered by an infection or by eating an increased amount of protein-rich foods.
Term
Isovaleric Acidemia
Definition
Screened for using mass spectrometry, using urine of newborns (early diagnosis ideal).
Term
Cystic Fibrosis
Definition
Hereditary disease, involving thick mucus production that affects the lungs and digestive system. Patient also has a compromised immune system. These is no cure, most individuals die young.
Term
Galactosemia
Definition
Rare genetic metabolic disorder, patient can't properly metabolize the sugar galactose.
Term
Galactosemia
Definition
Treat by eliminating lactose and galactose from diet.
Term
Glycogen Storage Disease
Definition
Results from enzyme defects that affect the processing of synthesis or breakdown of glycogen (within muscles, liver, other cells).
Term
Wilson's Disease
Definition
Accumulation of copper in tissues, which manifests itself with neurological symptoms and liver disease.
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