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Lysosomal storage disorders in the newborn

Orna Staretz-Chacham1, Tess C Lang, Mary E LaMarca

  • 1Office of the Clinical Director, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1A213, 35 Convent Dr, MSC 3708, Bethesda, MD 20892-3708, USA.

Pediatrics
|April 2, 2009
PubMed

Insights

Lysosomal storage disorders (LSDs) can appear in newborns, yet are often overlooked. Early recognition of specific symptoms is crucial for timely diagnosis and treatment of these rare metabolic diseases.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Lysosomal storage disorders (LSDs) are rare genetic metabolic diseases.
  • They affect approximately 1 in 1500 to 7000 live births.
  • LSDs are often not considered in the initial evaluation of sick newborns.

Purpose of the Study:

  • To review the early clinical features of LSDs presenting in the neonatal period.
  • To highlight diagnostic tests and treatment options for infantile LSDs.
  • To increase physician awareness of LSDs in newborns to reduce misdiagnosis.

Main Methods:

  • Literature review focusing on perinatal phenotypes of LSDs.
  • Analysis of early clinical manifestations including neurological, respiratory, endocrine, and cardiovascular symptoms.
  • Examination of dysmorphic features, hepatosplenomegaly, skin/ocular involvement, and hydrops fetalis.

Main Results:

  • Over 50 types of LSDs exist, with many manifesting neonatally.
  • Specific perinatal symptoms include neurological deficits, respiratory distress, organomegaly, and congenital anomalies.
  • Early detection is vital as prompt therapy improves outcomes for several LSDs.

Conclusions:

  • LSDs should be included in the differential diagnosis for various perinatal conditions.
  • Increased awareness of neonatal LSD presentations can lead to earlier detection and intervention.
  • Timely management is critical for improving prognosis in affected newborns.

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