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Determining the Serum Stability of Human Adenosine Deaminase 1 Enzyme
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Determining the Serum Stability of Human Adenosine Deaminase 1 Enzyme

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Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant

Manuel Castro-Gago1, Carmen Gómez-Lado, Laura Pérez-Gay

  • 1Servicio de Neuropediatría, Hospital Clínico Universitario, Facultad de Medicina, Universidad de Santiago de Compostela, Santiago de Compostela, Spain. manuel.castro.gago@usc.es

Journal of Child Neurology
|February 24, 2011
PubMed

Insights

Adenosine monophosphate (AMP) deaminase deficiency spectrum includes exercise-induced muscle pain and rare congenital weakness. This study identifies a homozygous mutation linked to congenital hypotonia, suggesting a primary AMP deaminase deficiency presentation.

Area of Science:

  • Biochemistry
  • Genetics
  • Neuromuscular Disorders

Background:

  • Adenosine monophosphate (AMP) deaminase deficiency presents a wide clinical spectrum, from asymptomatic carriers to exercise-induced myopathy.
  • Congenital muscle weakness and hypotonia have been rarely associated with AMP deaminase deficiency prior to molecular diagnostics.

Observation:

  • A 6-month-old female infant presented with congenital muscle weakness and hypotonia.
  • Genetic analysis revealed a homozygous C to T mutation at nucleotide 34 of the adenosine monophosphate deaminase-1 gene.

Findings:

  • The patient exhibited muscle deficiency of adenosine monophosphate deaminase.
  • This homozygous mutation is associated with congenital muscle weakness and hypotonia.

Implications:

  • This case suggests that primary adenosine monophosphate deaminase deficiency can manifest as congenital muscle weakness and hypotonia.
  • Highlights the importance of genetic analysis in diagnosing rare neuromuscular disorders.
  • Expands the known clinical spectrum of AMP deaminase deficiency.

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