I was a metabolics fellow for year, but that was more than 15 years ago so my memory is a little vague.
I had two newborns present with urea cycle defects in the same week. The first had CPS deficiency, I think, and presented with sleepiness and 'constipation'. He wasn't pooping because he wasn't eating enough due to altered mental status, but his educated and experienced parents simply didn't appreciate how sick he was. The second was a male with OTC deficiency who I think presented with respiratory distress (acidosis) and sleepiness.
I saw many infants who presented with jaundice and a conjugated hyperbilirubinemia. The most memorable had Tyrosinemia, with complete liver failure. During his time with us, he started having bleeding issues, from his gums mostly, and also nosebleeds. Sadly, he died after waiting months for a transplant. More commonly, we evaluated these infants for metabolic causes and they turned out to have biliary atresia.
I cared for a neonate who presented with frequent neonatal seizures and had nonketotic hyperglycinemia. She also had extremely poor tone, which became more noticeable as she grew.
I had a neonate who suffered kernicterus with seizures for a bilirubin that was high but not outrageous, and while we were consulting on him his newborn screen came back positive for galactosemia.
I had a number of kids with glycogen storage diseases but I can't remember how the ones with neonatal presentations came to light. I think tachypnea (metabolic acidosis) and hepatomegaly are common. See Archives of Disease in Childhood, 1982, 57, 309-319
I had many patients with cystic fibrosis and PKU who were diagnosed based on newborn screening tests and had no symptoms at presentation.
We also had an incredible young woman who had the poor fortune of having both a urea cycle defect and cystic fibrosis. She presented in the newborn period with bowel obstruction. I don't recall the exact circumstances, but she was diagnosed with both within the first few weeks of life. She lived in perhaps the only place in the world where cystic fibrosis is managed by the metabolic service, so the same service diagnosed and managed both of her diseases.
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