Chemistry, Jan 2009

Amino acid crystalizes in the urine.
Cystine crystals are deposited in the kidneys, eyes, bone marrow, liver, spleen and macrophages.
A lysosomal stroage disorder, thought to result from a defect in the transport process for the passage of cystine crystals across lysosomal membranes.
Cystinosis – Nephropathic Infant Onset
Neurologic deficits, failure to thrive, photophobia, rickets, acidosis, generalized renal dysfunction – Fanconi syndrome can surface.
Cystinosis – Intermediate or Adolescent Onset
Like Nephropathic Infant Onset, but less severe kidney damage and Fanconi syndrome does not usually surface.
Cystinosis – Benign Adult Onset
Results in cystine crystals deposited in the cornea, leukocytes and bone marrow.
Hartnup Syndrome
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.
Hartnup Syndrome
Red Rash – due to nicotinamide deficiency that results when tryptophan is malabsorbed.
Albinism Type I
Condition due to the absence of tyrosinase, the enzyme that converts tyrosine to melanin.
Albinism Type II
Condition due to a deficiency of tyrosinase, which inhibits melanin production.
Secondary Aminoaciduria
Due to a defect in the renal tubular transport mechanism, may be due to kidney disease, liver disease or starvation.
Primary Aminoaciduria
Results from an enzyme defect in the pathway by which a specific amino acid is metabolized.
Fanconi Syndrome
The proximal tubular function of the kidney is impaired, and cannot reabsorb electrolytes and nitrients properly.
Fanconi Syndrome Type 2 or Proximal Renal Tubular Acidosis
Reduced reabsorption of bicarbonate, causes rickets(children), osteomalacia(adults), growth failure, acidosis, etc.
Recognized causes of Fanconi Syndrome
Wilson’s disease, Lowe Syndrome, Tyrosinemia Type I, galactosemia, glycogen storage diseases, fructose intolerance, ingesting expired tetracyclines, side effect of tenofovir.
Isovaleric Acidemia
An autosomal metabolic disorder, it disrupts or prevents normal metabolism of the amino acid leucine.
Isovaleric Acidemia
Characterized by “Sweaty Feet”. In infants, vomiting, seizures,lack of energy, progression to coma.
Isovaleric Acidemia
Often triggered by an infection or by eating an increased amount of protein-rich foods.
Isovaleric Acidemia
Screened for using mass spectrometry, using urine of newborns (early diagnosis ideal).
Cystic Fibrosis
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.
Rare genetic metabolic disorder, patient can’t properly metabolize the sugar galactose.
Treat by eliminating lactose and galactose from diet.
Glycogen Storage Disease
Results from enzyme defects that affect the processing of synthesis or breakdown of glycogen (within muscles, liver, other cells).
Wilson’s Disease
Accumulation of copper in tissues, which manifests itself with neurological symptoms and liver disease.
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