Version June 2024
| Finding | Potential inborn error |
| General | |
| Tall, long-limbed body habitus | Homocystinuria |
| Head | |
| Coarse facial features (eg, hirsuitism, prominent brow ridge, and gingival hypertrophy) | Oligosaccharidoses, mucopolysaccharidoses, mucolipidoses |
| Microcephaly | Untreated phenylketonuria (PKU), maternal PKU syndrome, congenital disorders of glycosylation, leukodystrophies (late), organic acidemias, urea cycle disorders, maple syrup urine disease |
| Macrocephaly | Canavan disease, glutaric acidemia type I, oligosaccharidoses, mucopolysaccharidoses, mucolipidoses, Tay-Sachs (early) |
| Hair | |
| Alopecia | Biotinidase deficiency, vitamin D-resistant rickets |
| Sparse | Biotinidase deficiency, Menkes |
| Kinky, brittle | Argininosuccinic aciduria and citrullinemia (due to arginine deficiency), Menkes, mucopolysaccharidoses |
| Eyes | |
| Cataracts | Oligosaccharidoses, Fabry disease, neuronal ceroid lipofuscinosis, galactosemia, Smith-Lemli-Opitz syndrome peroxisome biogenesis defects, rhizomelic chondrodysplasia punctata, Wilson disease, mitochondrial disorders, Lowe syndrome |
| Cherry-red spot | Tay-Sachs disease, Sandhoff disease, Sialidosis type I and type II, GM1-gangliosidosis, Niemann-Pick disease type A, Gaucher disease type 2, metachromatic leukodystrophy, galactosialidosis |
| Corneal clouding | Oligosaccharidoses, mucopolysaccharidoses, mucolipidoses, Tangier, sialidosis |
| Corneal opacity | Oligosaccharidoses, Fabry disease, steroid sulfatase deficiency (X-linked ichthyosis), Tangier, molybdenum cofactor deficiency, sulfite oxidase deficiency |
| Dislocated lens | Homocystinuria, sulfite oxidase deficiency |
| Kayser-Fleischer rings | Wilson disease |
| Retinitis pigmentosa | Abetalipoproteinemia, peroxisome biogenesis disorders, congenital disorders of glycosylation, fatty acid oxidation defects, mitochondrial disorders, mucopolysaccharidoses, Krabbe disease, Menkes disease, disorders of cobalamin (vitamin B12) transport and synthesis, ornithine aminotransferase deficiency |
| Ears | |
| Hearing loss | Peroxisomal disorders, mitochondrial disorders, lysosomal storage disorders, mucopolysaccharidoses |
| Mouth | |
| Gingival hyperplasia | Oligosaccharidoses, mucopolysaccharidoses, mucolipidoses |
| Chest | |
| Inverted nipples | Congenital disorders of glycosylation |
| Abdomen | |
| Hepatosplenomegaly | Lysosomal storage disorders |
| Hepatomegaly | Glycogen storage diseases, carnitine palmitoyltransferase II deficiency (infantile form), peroxisomal disorders, mitochondrial DNA depletion disorders, tyrosinemia type I (hepatorenal), mucolipidoses, congenital disorders of glycosylation, longer-chain fatty acid oxidation disorders. |
| Musculoskeletal | |
| Arthritis | Farber disease, purine metabolism disorders |
| Neurologic | |
| Dystonia | Glutaric acidemia I, organic acidemias, Wilson disease, mitochondrial disorders |
| Myopathy | Fatty acid oxidation defects, mitochondrial disorders, Pompe disease and other glycogen storage diseases |
| Paresthesia | Fabry disease, sialidosis |
| Peripheral neuropathy | Congenital disorders of protein glycosylation, leukodystrophies, peroxisomal disorders, Tangier disease |
| Psychoses | Adult Tay-Sachs, homocystinuria, porphyrias, purine metabolism disorders |
| Skin | |
| Hypopigmentation or absent pigment | Cystinosis, Menkes disease, phenylketonuria, sialidosis |
| Angiokeratoma | Fabry, fucosidosis, galactosialidosis, beta-mannosidosis, sialidosis |
| Dermatitis | Biotinidase deficiency, Hartnup disease, phenylketonuria, prolidase deficiency |
| Edema | GM1 gangliosidosis, prolidase deficiency |
| Hirsutism | Oligosaccharidoses, mucopolysaccharidoses, mucolipidoses |
| Ichthyosis | Multiple sulfatase deficiency, isolated steroid sulfatase deficiency |
| Photosentization | Porphyrias |
| Xanthomas | Hyperlipoproteinemias and other disorders of lipoproteins |
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