Metabolic Flashcards
1
Q
Urea Cycle disorder / Ornithine transcarbamylase deficiency (OTC)
A
Alkalosis VERY HIGH ammonia Low urea N glucose/ketones/lactate Precipitated by virus
2
Q
Organic Acidaemia
A
Acidosis HIGH ammonia LOW glucose HIGH ketones HIGH lactate
3
Q
Mitochondrial
A
Acidosis N ammonia N glucose N/high ketones VERY HIGH lactate Progressive encephalopathy (Leigh disease)
4
Q
Fatty acid oxidation defect
A
Acidosis N/high ammonia LOW glucose LOW ketones Normal lactate e.g. VLCFA, MCAD (can't make ketones)
5
Q
Glucose transport disorder
A
Seizures
CSF low glucose
6
Q
Peroxisomal
A
Normal everything
e.g. XL adrenoleukodystrophy, Zellweger
7
Q
Lysosomal Storage
A
Normal everything
e.g. MPS, Pompe, Niemann Pick
