This document discusses several acute metabolic presentations in adults, including: 1. A 23-year-old female who presented three times with nausea, vomiting and abdominal pain associated with acidosis and hypoglycemia and later had a cardiac arrest after heavy drinking. She was diagnosed with medium-chain acyl-CoA dehydrogenase deficiency (MCADD). 2. A 19-year-old female who became vomiting and disoriented after smoking hashish and heavy drinking, and later became apneic. Post-mortem found fatty liver infiltration consistent with MCADD. 3. A 23-year-old male presenting with his second deep vein thrombosis who was diagnosed with cystathionine beta-synthase

1. ACUTE METABOLIC PRESENTATIONS in ADULTS Dr. Peter Galloway, Royal Hospital for Sick Children / Glasgow Royal Infirmary, Glasgow

3. Certain diseases usually appear at specific ages But Age at Presentation depends on degree of enzyme deficiency and challenges an individual faces Complete absence – very poor prognosis. Even with families with same defect, very different age of presentation

20. Methionine Diet Homocysteine Cystathionine Cysteine 5-10 MTHF 5 MTHF THF MS BHMT Dimethylgycine Betaine S-Adomet S-AdoHom MTHFR CBS B12 B6 B6 SO 4 2-