This case study describes a newborn male who showed signs of respiratory distress after birth. On day 2, he refused feeds and became lethargic and sick. Laboratory tests found metabolic acidosis, increased ammonia and an abnormal amino acid profile. Genetic testing confirmed propionic acidemia due to a deficiency in propionyl CoA carboxylase. The newborn was treated with intravenous fluids and sodium acetate to stabilize his condition. Without newborn screening and rapid diagnosis, propionic acidemia can lead to serious long-term complications.

1. Case Study
By
Ahmad Saad Almenshawy
Assistant lecturer of Clinical Pathology- Faculty of Medicine
Mansoura University

2. History and examination:
• A full-term newborn male showed respiratory
distress shortly after birth, he was treated
immediately with a nasal cannula and
intravenous fluids.
• On day 2 of life, respiratory distress had
resolved and breastfeeding was introduced.
However, he refused oral feeds, becoming
lethargic and suffering from episodes of vomiting
and unusual odour. Feeding was withheld and
intravenous fluids reintroduced.

3. • On day 4, he was transferred to a tertiary referral
pediatric center with tachypnea and increased
work of breathing.

5. Differential Diagnosis:
• Neonatal sepsis.
• Pyloric stenosis.
• Diarrhea or renal tubular acidosis.
• Inborn error of metabolism.
• Cow milk intolerance.
• Celiac disease.

6. Laboratory investigations:
Metabolic acidosis
No sepsis
Normal LFT
Normal Cr. And electrolytes
Increased BUN,ammonia and
anoin gap
Pancytopenia

7. • Radiological studies: showed normal findings regarding stomach
and intestine.

8. • Gas chromatography–mass spectrometry (GC-MS).

9. • S.glycine: 780 µmol/L (reference interval: 130 – 410)
µmol/L
• S.Lysine : 323 µmol/L (reference interval: 55.0 – 270) µmol/L.
• The diagnosis is confirmed by assessing the propionyl CoA
activity .
• The molecular diagnosis is done by detection of homozygous
pathogenic mutation (c.1173 dup T) in PCCD gene.

11. Conclusion:
• This is a case of Propionic acedimia cause by deficiency
of Propionyl CoA carboxylase (PCCD)

14. Management:
Although the majority of NBS reports are done by day 3
of life in many countries, this may not be adequate in
detecting early-presenting forms. Rapid diagnosis and
mangement are recommended.
Protein-containing feeds were held. He was commenced
on dextrose containing intravenous fluids at a glucose
infusion with intravenous lipid emulsion to suppress
catabolism.
 The base deficit was corrected with sodium acetate and
his metabolic parameters stabilized over a 24-h period.

15. Complications:
At 2 to 3 years old, the patient will get global
developmental delay, epilepsy, chronic gastrointestinal
dysmotility, and a dyskinetic movement disorder.
He will be rehospitalized on multiple occasions for
feeding intolerance and metabolic decompensation.
These complications are well described in the severe
form of PA. Additional late complications in this disorder
include cardiomyopathy, prolonged QT interval, and optic
neuropathy.

16. Take home message:
• NBS became a very important screening test worldwide.
• Egypt has one of the highest new cases around the world.
• We have to extend it to allow better outcome regarding
neonatal metabolic problems.
• Tandem mass spectrometry is an essential tool to be found in
pediatric hospitals.

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