Approach to Inborn Errors of Metabolism. Dr Yaser A. Mohammad. Why did you choose this topic ?. 2 Cases. 2 yrs old boy KCO Ethylmalonic Aciduria. Presenting with bronchopneumonia & Metabolic crisis. Drowsy, acidotic breathing, tachycardic , BP & SPo2 maintained with O2.
Dr Yaser A. Mohammad
RBS : 8 Lactate: 6.5 Ammonia : 40
K : 1.9 RBS : 8 Ammonia 246
- Results from enzyme deficiencies in the pathway of Amino acids degradation.
MERRF ( Myoclonic Epilepsy with ragged red fibres)
- Vomiting and anorexia or failure to feed.
- Lethargy that can progress to coma.
- Seizures, particularly intractable.
- Rapid, deep breathing that can progress to apnea.
- Hypothermia (related to illness, not specific to a particular metabolic pathway).