3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening.
We report a 19-month-old girl with a 3-methylcrotonyl-coenzyme A carboxylase deficiency that was detected through newborn screening. She was treated for the first 12 months but was lost to follow-up after the initial year. Her parents did not comply with the recommendations for management during periods of illness or for regular medical evaluations. During an acute illness, she presented with severe acidosis, hypoglycemia, and a low plasma carnitine level at 19 months of age. This report highlights the importance of more extensive follow-up plans to improve parental compliance.
Ficicioglu
Can
C
Children's Hospital of Philadelphia, Section of Biochemical Genetics, 34th and Civic Center Boulevard, Main Building #9S20, Philadelphia, PA 19104, USA. ficicioglu@email.chop.edu
Payan
Irma
I
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000628:therapy*; D019735:Carbon-Carbon Ligases / Q000172:deficiency*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007930:Leucine / Q000378:metabolism*; D008659:Metabolic Diseases / Q000209:etiology*; D015997:Neonatal Screening; D016312:Treatment Refusal
D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase; D007930:Leucine