Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency

Ellen Roy Elias, Munir Mobassaleh, Amiya K. Hajra, Ann B. Moser

Research output: Contribution to journalArticle

Abstract

We describe a 6 1/2-year-old-girl presenting with a unique phenotype and dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency (1.6% of control activity in cultured fibroblasts), a peroxisomal enzyme deficiency which was reported previously to cause rhizomelic chondroplasia punctata (RCDP). Her phenotype is less severe than that seen in classical RCDP, and is notable for short stature, microcataracts, normal limbs, mild hypotonia, and severe mental retardation. Epiphyseal stippling is present. This patient illustrates the variability of peroxisomal disorders whereby a specific defect in peroxisomal plasmalogen synthesis may lead to several phenotypes. Her case also suggests that children presenting with deficient growth, developmental delay, and epiphyseal stippling should be screened carefully for peroxisomal disorders, with measurement of plasmalogens in addition to very long chain fatty acids.

Original languageEnglish (US)
Pages (from-to)223-226
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume80
Issue number3
DOIs
StatePublished - 1998

Fingerprint

Peroxisomal Disorders
Plasmalogens
Phenotype
Growth
Muscle Hypotonia
Intellectual Disability
Fatty Acids
Extremities
Fibroblasts
Enzymes
Type 2 rhizomelic chondrodysplasia punctata

Keywords

  • Cataracts
  • Dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency
  • Mental retardation
  • Rhizomelic chondrodysplasia punctata (RCDP)
  • Short stature

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency. / Elias, Ellen Roy; Mobassaleh, Munir; Hajra, Amiya K.; Moser, Ann B.

In: American Journal of Medical Genetics, Vol. 80, No. 3, 1998, p. 223-226.

Research output: Contribution to journalArticle

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