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. Author manuscript; available in PMC: 2017 Sep 1.
Published in final edited form as: Mol Genet Metab. 2016 Jul 15;119(1-2):75–82. doi: 10.1016/j.ymgme.2016.07.002

Table 3.

Type and frequency of neonatal triggers, neonatal symptoms, and neonatal abnormal labs

Neonatal Triggers, Symptoms and Abnormal Labs Frequency of Appearance
aNeonatal Triggers (37 subjects)
  Poor Feeding 20
  Prematurity (<37 weeks gestation) 15
  Antibiotics 12
  Respiratory distress 7
  Infection/sepsis 5
  Dehydration 4
  Failure to thrive 2
  Fever 2
  Intralipids 2
  Transient Tachypnea of the Newborn 2
  Decreased oxygen saturation, fasted, loose stools, mild gastroesophageal reflux, poor growth, poor latch, vomiting, gavage feeding 1 each
bNeonatal Symptoms (28 subjects)
  Lethargy 13
  Distress 9
  Tachypnea 8
  Hypoglycemia 5
  Hypothermia 3
  Hypotonia 3
  Irritability 3
  Cardiomyopathy 2
  Sleepy 2
  Apnea, hepatomegaly, limp, metabolic acidosis, Echo: mild left hypertrophy, pallor, seizure, sweaty, tachycardia, temperature instability 1 each
cNeonatal Abnormal Labs (21 subjects)
  Hypoglycemia 20
  Elevated liver function tests 7
  Metabolic acidosis 6
  Elevated uric acid 3
  Low Co2 2
  Hyperuricemia 2
  Elevated C reactive protein, abnormal carnitine level, abnormal CMP, elevated BUN, elevated CK, elevated creatinine, hyperammonemia, ketonuria, slight elevation ALT 1 each
a

neonatal complications and interventions suggestive of underlying health complications in the data determined by clinician authors as most likely to result in potential MCADD symptoms.

b

neonatal symptoms in the data determined by clinician authors as consistent with MCADD, many based on reports of symptoms manifested in individuals affected with MCADD. IBEM-IS data entry does not require clinician specification of whether a subject’s symptoms were ultimately attributed to or related to the particular IBEM diagnosis.

c

neonatal laboratory test abnormalities in the data determined by clinician authors to be of potential concern in the context of MCADD (excluding newborn screening and MCADD diagnostic biochemical and molecular test results).