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Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase

E R Elias1, M Mobassaleh, A K Hajra

  • 1Department of Medicine, The Children's Hospital, Boston, Massachusetts 02115, USA. Elias_E@A1.tch.harvard.edu

American Journal of Medical Genetics
|December 8, 1998
PubMed

Insights

A rare peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency, presented with a unique, milder phenotype in a child. This case highlights the spectrum of peroxisomal diseases and the importance of screening for plasmalogen synthesis defects.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Peroxisomal enzyme deficiencies can lead to a range of clinical phenotypes.
  • Rhizomelic chondrodysplasia punctata (RCDP) is a severe condition typically caused by peroxisomal disorders.
  • Dihydroxyacetonephosphate acyltransferase (DHAP-AT) is a key enzyme in peroxisomal plasmalogen synthesis.

Observation:

  • A 6 1/2-year-old girl presented with a unique phenotype, including short stature, microcataracts, normal limbs, mild hypotonia, severe mental retardation, and epiphyseal stippling.
  • Cultured fibroblasts showed a significant deficiency in DHAP-AT activity (1.6% of control).
  • The patient's phenotype was less severe than classical RCDP.

Findings:

  • The patient's DHAP-AT deficiency demonstrates a less severe clinical presentation than previously reported for this specific peroxisomal enzyme defect.
  • This case underscores the phenotypic variability associated with defects in peroxisomal plasmalogen synthesis.
  • Epiphyseal stippling was observed, a feature sometimes seen in peroxisomal disorders.

Implications:

  • Children with growth deficiency, developmental delay, and epiphyseal stippling should be evaluated for peroxisomal disorders.
  • Measuring plasmalogens and very long chain fatty acids is crucial for diagnosing peroxisomal disorders with varied presentations.
  • Understanding the spectrum of DHAP-AT deficiency is important for accurate diagnosis and management of peroxisomal diseases.

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