Table 1.
Small-molecule disorders of IEMs in KAMC (2001–2014). Total numbers of live births (110,601)
| Disease category | Number of cases diagnosed | Incidence per 100,000 | Mean age at diagnosis | Median age at diagnosis | Range of age |
|---|---|---|---|---|---|
| Organic acidemias | 34 | 30 | 1.8 years | 60 days | 1 day–10 years |
| Propionic acidemia | 9 | 30.2 days | 20 days | 1 day–6 months | |
| Methylmalonic acidemia | 7 | ||||
| Mutase deficiency | 5 | ||||
| Cobalamin A defect | 1 | ||||
| Cobalamin C defect | 1 | ||||
| Glutaric acidemia | 3 | ||||
| 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | 4 | ||||
| 3-Methylcrotonylco A carboxylase deficiency | 3 | ||||
| Biotinidase deficiency | 3 | ||||
| 3-Methylglutaconic Aciduria Type III | 1 | ||||
| Ethylmalonic encephalopathy | 1 | ||||
| B-ketothiolase deficiency | 1 | ||||
| Isovaleric acidemia | 1 | ||||
| Malonic aciduria | 1 | ||||
| Aminoacidopathies | 30 | 27 | 3.3 years | 10.5 months | 1 day–13 years |
| Homocystinuria | 14 | 7 years | 7.5 years | ||
| • Classical | 11 | ||||
| • MTHFR deficiency | 2 | ||||
| • MAT deficiency | 1 | ||||
| PKU | 5 | ||||
| • Classical | 3 | ||||
| • Non-PKU hyperphenylalaninemia | 2 | ||||
| Biopterin Synthesis Defect PTPS deficiency | 4 | ||||
| MSUD | 5 | ||||
| Asparagine synthetase deficiency | 2 | ||||
| Vitamins responsive disorders | 18 | 16 | 5.7 years | 5.5 years | 6 months–10 years |
| Biotin Thiamine Responsive Basal Ganglia Disease | 17 | ||||
| Pyridoxine-dependent epilepsy | 1 | ||||
| Inborn Errors of Carbohydrates | 12 | 11 | 3.1 years | 1.3 years | 1 week–7 years |
| Galactosemia | 4 | ||||
| Transaldolase deficiency | 6 | ||||
| Hereditary fructose intolerance | 1 | ||||
| Fructose 1,6 bisphosphatase deficiency | 1 | ||||
| Urea Cycle Disorders | 12 | 11 | 12 days | 7 days | 1 day–30 days |
| Argininosuccinic Aciduria | 8 | ||||
| Citrullinemia | 4 | ||||
| Fatty Acid Oxidation Defects | 5 | 4 | 1.4 years | 2 days | 2 days–7 years |
| VLCAD deficiency | 3 | 21 days | 2 days | 2 days–60 days | |
| MCAD deficiency | 1 | 2 days | 2 days | 2 days | |
| Carnitine uptake defect | 1 | 7 years | 7 years | 7 years | |
| Aminoacids transport defect | 5 | 4 | 10 years | 11 years | 6–13 years |
| Cystinuria | 5 | ||||
| Metal transport defect | 2 | 2 | 8.5 years | 8.5 years | 7–10 years |
| Wilson disease | 2 | ||||
| Disorders of Haem biosynthesis | 2 | 2 | 12.5 years | 12.5 years | 12–13 years |
| Acute intermittent porphyria | 2 | ||||
| Cholesterol biosynthesis defect | 1 | 1 | 1 year | 1 year | 1 year |
| CHILD syndrome | 1 | ||||
| Total | 121 | 109 | 3.3 years | 9 months | 1 day–13 years |
MTHFR methylenetetrahydrofolatereductase, MAT methionine adenosyltransferase, PKU phenylketonuria, MSUD maple syrup urine disease, VLCAD very long-chain acyl-CoA dehydrogenase, MCAD medium-chain acyl-CoA dehydrogenase, CHILD Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, PTPS 6-Pyruvoyl-Tetrahydropterin Synthase