Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.
The medical and neurodevelopmental characteristics of 14 children with short-chain acyl-CoA dehydrogenase deficiency (SCADD) are described. Eight were detected as neonates by newborn screening. Three children diagnosed on the basis of clinical symptoms had normal newborn screening results while three were born in states that did not screen for SCADD. Treatment included frequent feedings and a low fat diet. All children identified by newborn screening demonstrated medical and neuropsychological development within the normative range on follow-up, although one child had a relative weakness in the motor area and another child exhibited mild speech delay. Of the three clinically identified children with newborn screening results below the cut-off value, two were healthy and performed within the normal range on cognitive and motor tests at follow-up. Four clinically identified children with SCADD experienced persistent symptoms and/or developmental delay. However, in each of these cases, there were supplementary or alternative explanations for medical and neuropsychological deficits. Results indicated no genotype-phenotype correlations. These findings suggest that SCADD might be benign and the clinical symptoms ascribed to SCADD reflective of ascertainment bias or that early identification and treatment prevented complications that may have occurred due to interaction between genetic susceptibility and other genetic factors or environmental stressors.
Waisbren
S E
SE
Department of Genetics, Children's Hospital Boston, Harvard Medical School, Boston, MA 02215, USA. susan.waisbren@childrens.harvard.edu
Levy
H L
HL
Noble
M
M
Matern
D
D
Gregersen
N
N
Pasley
K
K
Marsden
D
D
D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D000223:Adaptation, Psychological; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology* / Q000235:genetics / Q000523:psychology; D001900:Boston; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000201:enzymology* / Q000235:genetics / Q000523:psychology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D009460:Neurologic Examination
D042964:Acyl-CoA Dehydrogenase