Postpartum screening Flashcards
1
Q
- Impaired metabolism of amino acid phenylalanine results in toxicity.
- Can lead to MR & sf’s
- Autosomal recessive
A
Phenylketonuria
2
Q
Most sporadic, but can be autosomal recessive transmission.
Can result in MR, brain damage and general growth delay
Can present with jaundice,
A
Hypothyroid
3
Q
Autosomal recessive
RBC morphology defect
A
Sickle CEll
4
Q
Metabolic inability to utilize galactose properly. Can lead to brain damage and death -Autosomal recessive -Begin 1-2 days after milk ingestion Can result in MR Autosomal recessive
A
Galactosemia
5
Q
Metabolic inability to utilize galactose properly. Can lead to brain damage and death -Autosomal recessive -Begin 1-2 days after milk ingestion Can result in MR Autosomal recessive
A
Galactosemia
6
Q
Marfanoid body habits with limited joint mobility.
Autosomal recessive
A
Homocystinuria
7
Q
Amino Acid metabolism disorder.
Liver/kidney disturbances
MR
Autosomal recessive
A
Tyrosinemia
8
Q
Symptoms develop 4-7 days postpartum Lethargy & poor suck Can progress to ketoacidosis Amino acid issue Autosomal recessive
A
Maple Syrup Urine Disease
9
Q
Lung and intestinal issues
A
Cystic Fibrosis
