Examination findings
| Feature | Disorder(s) |
|---|---|
| Dysmorphism | Smith-Lemli-Opitz, other cholesterol synthesis disorders |
| Congenital disorders of glycosylation | |
| Peroxisomal disorders | |
| Lysosomal disorders | |
| Hepato(spleno)megaly | Lysosomal storage disorders, glycogen storage disorders |
| Cardiomyopathy | Lysosomal storage disorders, fatty acid oxidation defects, mitochondrial disorders |
| Smell | Organic acid disorders |
| Neurological signs | |
| Dystonia | Mitochondrial disorders, organic acidurias, pterin defects |
| Macrocephaly | Canavan’s disease, Tay-Sachs, L-2-hydroxyglutaric aciduria, glutaric aciduria type I |
| Microcephaly | Sulphite oxidase deficiency, maternal PKU offspring, previous hyperammonaemia, previous hypoglycaemia, GLUT-1 deficiency, neuronal ceroid lipofuscinosis 1 |
| Growth—failure to thrive, short stature | Many IEMs, e.g. organic acid, amino acid, urea cycle disorders |
| Hair—coarse, “kinky” | Menkes disease, MPS disorders, arginino-succinic aciduria |
| Skin—coarse, ichthyosis, eczema | LSD, Conradi-Hunermann, biotinidase deficiency, Sjogren-Larsson |