inborn errors of metabolism
| Headline | |
|---|---|
| Etiology | accumulation of excess metabolites/precursors, energy insufficiency. |
| Epidemiology | |
| Clinical presentation | - Precipitated by metabolic stress. - diarrhoea, lethargy, resp distress, encephalopathy, hypoglycaemia, jaundice/hepatomegaly, developmental delay - metab acidosis, renal stones, metab imbalances, coma Ddx: |
| Pathogenesis | |
| Diagnostic investigations | "in deciding which tests to do, get help; interest the lab in your problem." - OHCS |
| Management | Complications: |
| Screening | Heel prick test |
specific signs
| Hepatosplenomegaly | Lysosomal storage disorders, amino acid/organic acid disorders |
| Coarse facies | |
| ↓ WCC, ↓ platelets | organic acidurias |
| Failure to thrive | Cystinuria, aminoacidurias |