Sandor LifeSciences
Biosciences Research Services

Aminoacidopathies

Any of a group of inborn 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.

Aminoacidopathies can be detected under some Clinical Indications

  • Poor feeding
  • Vomiting
  • Hypotonia
  • Lethargy
  • Seizures
  • Coma
  • Dysmorphism
  • Unusual odor
  • Intolerance to feeding
  • Failure to thrive
  • Developmental delay
  • Episodic ataxia
  • Hypotonia
  • Choreoathetosis
  • Spastic paraparesis
  • Movement disorder
  • Learning disorder
  • Behavior disorder
  • Awkward gait
  • Microcephaly
  • Recurrent venous thrombosis
  • Hepatomegaly
  • Pancreatitis
  • Urinary stones
  • Renal tubular dysfunction
  • Optic lens dislocation
  • Night blindness/myopia
  • Optic atrophy
  • Skeletal changes
  • Hair loss/unusual hair
  • Hair/skin pigmentary changes
  • Skin lesions/recurrent skin ulcers
  • Unusual odor
  • Acute illness precipitates by stress
  • Mental retardation
  • Episodic stupor or ataxia
  • Spastic diplegia
  • Coma
  • Neuropsychiatric symptoms
  • Premature vascular occlusive diseases
  • Hepatomegaly
  • Familial urinary stones
  • Optic lens dislocation
  • Retinitis pigmentosa
  • Skeletal changes
  • Recurrent skin ulcers
  • Unusual odor
  • Acute illness precipitated by stress

Reverse Phase High performance liquid chromatography (HPLC) followed by post-column derivatization with o-pthaldialdehyde

Chromatography

Most common Aminoacidopathies

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