Sandor Speciality Diagnostics
Biosciences Research Services

Biochemical Genetic Diagnostics

The core function of this module is early diagnosis and intervention of inborn errors of metabolism (IEMs) based on metabolite identification or specific enzyme assays.

Categories of inborn errors of metabolism, or IEMs, are as follows:

  • Disorders of protein metabolism (eg, amino acidopathies, organic acidopathies, urea cycle defects)
  • Disorders of carbohydrate intolerance
  • Lysosomal storage disorders
  • Fatty acid oxidation defects
  • Disorders of carbohydrate utilization, production (ie, glycogen storage disorders, disorders of gluconeogenesis and glycogenolysis)
  • Mitochondrial disorders
  • Peroxisomal disorders

    Frequency :

    The incidence, collectively, is estimated to be as high as 3-4 in 1000 live births. The frequencies for each individual inborn error of metabolism vary, but most are very rare. Of term infants who develop symptoms of sepsis without known risk factors, as many as 20% may have an inborn error of metabolism.

    Mortality/Morbidity :

  • Mortality can be very high for certain inborn errors of metabolism (IEMs), particularly those that present in neonates, but initial presentation of IEM even in adults may result in death. Prompt treatment of acute decompensation can be life-saving and is critical to optimizing outcome.
  • Inborn errors of metabolism (IEMs) can affect any organ system and usually affect multiple organ systems resulting in morbidity due to acute and/or chronic organ dysfunction.
  • Progression may be unrelenting with rapid life-threatening deterioration over hours, episodic with intermittent decompensations and asymptomatic intervals, or insidious with slow degeneration over decades.
  • Consider IEMs in all neonates and young infants with unexplained death. Obtain specimens immediately postmortem in children with unexplained death.

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