Aminoacidopathies

Overview

Any of a group of in born errors of metabolism which results in the build up in the body of one or more amino acids in the blood and/or urine. The range and severity of symptoms is hugely variable.

Symptoms

  • Increased level of amino acid in blood
  • Increased level of amino acid in urine
  • Bleeding problems
  • Clotting problems
  • Impaired mental function
  • Developmental problems
  • Mental retardation
  • Neurological symptoms
  • Impaired organ function
  • Enlarged organs
  • Organ failure

Causes

  • Learning disabilities (205 causes)
  • Premature Breast Development (9 causes)
  • Learning disability (366 causes)
  • Writing symptoms (15 causes)
  • School problems (227 causes)
  • Language problems (47 causes)
  • Abetalipoproteinemia - neurological symptoms
  • Acrodynia - neurological symptoms
  • Acute Disseminated Encephalomyelitis - neurological symptoms