A rare metabolic disorder involving an enzyme (saccharopine dehydrogenase) deficiency which results in a harmful buildup of saccharopine.

Symptoms - Saccharopinuria

* Short stature * Spastic diplegia * Excessive urinary lysine * Excessive urinary citrulline * Excessive urinary histidine * Excessive urinary saccharopine * Increased blood lysine levels * Neurological abnormalities

Causes - Saccharopinuria

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Prevention - Saccharopinuria

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Diagnosis - Saccharopinuria

The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Saccharopinuria. This medical information about signs and symptoms for Saccharopinuria has been gathered from various sources, may not be fully accurate, and may not be the full list of Saccharopinuria signs or Saccharopinuria symptoms. Furthermore, signs and symptoms of Saccharopinuria may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Saccharopinuria symptoms.

Prognosis - Saccharopinuria

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Treatment - Saccharopinuria

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Resources - Saccharopinuria

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