Table 3.
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 |
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.
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.
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).