Case 450 -- A newborn with trisomy 21 and elevated level of C5-hydroxy acylcarnitine

Contributed by Ahmed Bedeir MD and K Michael Gibson, PhD, FACMG
Published on line in January 2006


PATIENT HISTORY:

This is a newborn female with trisomy 21 who also had abnormal newborn screening test showing elevation of C5-hydroxy acylcarnitine. Urine organic acid analysis revealed elevation of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine. Further testing included skin biopsy for fibroblast cultures and assay of 3-methylcrotonyl-CoA carboxylase activity that was significantly below the control range (6% of normal).

History : The mother mentioned that the baby has some constipation but no other problems.

PHYSICAL EXAMINATION (at 7 months):

FINAL DIAGNOSIS


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