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