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Related Experiment Videos

Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay

P T Clayton1, S Eckhardt, J Wilson

  • 1Hospital for Sick Children, London, UK.

Journal of Inherited Metabolic Disease
|January 1, 1994
PubMed
Summary
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A rare genetic disorder, isolated dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency, can cause developmental delay and failure to thrive. This enzyme deficiency presents with a milder phenotype than previously recognized.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Plasmalogen synthesis is crucial for cellular function.
  • Isolated dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency is a rare metabolic disorder.
  • Previous cases of DHAP-AT deficiency were associated with severe phenotypes like rhizomelic chondrodysplasia punctata.

Observation:

  • A 21-month-old boy presented with developmental delay and failure to thrive.
  • The patient exhibited punctate epiphyseal calcification but lacked rhizomelic limb shortening or cataracts.
  • Genetic analysis revealed defective plasmalogen synthesis due to isolated DHAP-AT deficiency.

Findings:

  • The patient's consanguineous parents and affected sister suggested autosomal recessive inheritance.

Related Experiment Videos

  • This case demonstrates isolated DHAP-AT deficiency in a patient without the typical severe phenotype.
  • The biochemical defect was identified as isolated dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency.

    • Implications:

    • This finding expands the known phenotypic spectrum of isolated DHAP-AT deficiency.
    • It suggests that DHAP-AT deficiency can present with milder symptoms than previously understood.
    • Further research is needed to understand the genotype-phenotype correlations in plasmalogen synthesis disorders.