Screening for Inborn Errors of Metabolism that Cause Neonatal Seizures Flashcards
1
Q
blood glucose low
A
fructose 1,6-diphosphatase deficiency
glycogen storage disease type 1
maple syrup urine disease
2
Q
blood calcium low
A
hypoparathyroidism
maternal hyperparathyroidism
3
Q
blood ammonia high
A
argininosuccinic acidemia carbamyl phosphate synthetase deficiency citrullinemia methylmalonic acidemia (may be normal) multiple carboxylase deficiency ornithine transcarbamylase deficiency propionic acidemia (may be normal)
4
Q
blood lactate high
A
fructose 1,6-diphosphatase deficiency
glycogen storage disease type 1
mitochondrial disorders
multiple carboxylase deficiency
5
Q
metabolic acidosis
A
fructose 1,6-diphosphatase deficiency glycogen storage disease type 1 maple syrup urine disease methylmalonic acidemia multiple carboxylase deficiency propionic acidemia
