Table 3.
Potentially treatable diseases
| Gene | Published phenotype | OMIM | Treatment | Clinical outcome |
|---|---|---|---|---|
| TPP1 n = 1 | Ceroid lipofuscinosis, neuronal, 2 | 204 500 | Cerliponase alfa | Medication was initiated, will be followed up regularly |
| GAMT n = 1 | Cerebral creatine deficiency syndrome 2 | 612 736 | Creatine-monohydrate, L-ornithine, sodium benzoate low protein diet | Seizures stopped, independent walking and understanding improved; two similarly affected cousins were diagnosed and treated immediately, they develop well, have no seizures. Video about the index: https://irdirc.org/yakups-journey-to-hope/ |
| DLAT n = 1 | Pyruvate dehydro-genase E2 deficiency, Leigh sy -like | 245 348 | Ketogenic diet | Died before genetic diagnosis |
| FOLR1 n = 5 | Neurodegeneration due to cerebral folate transport deficiency | 613 068 | Folinic acid, vitamin B6 | Alertness, perception and vocabulary improved in all 5 patients, unfortunately 3 lost follow up |
| PNPO n = 1 | Pyridoxamine 5'-phosphate oxidase deficiency | 610 090 | Pyridoxine | Started, will be followed up |
| GALK1 n = 1 | Galactokinase deficiency with cataracts | 230 200 | Dietary lactose restriction | Prevented cataract, no change in psychomotor function |
| ETFDH n = 2 | multiple acyl-CoA dehydrogenase deficiency MADD | 231 680 | Riboflavin, coq10 | Muscle strength improved in a few weeks with better head control, started independent walking at 3 years of age, after treatment |
| COQ4 n = 1 | Coenzyme Q10 deficiency, primary 7 | 616 276 | Coq10 | Had severe epilepsy and died soon after diagnosis |
| COLQ n = 4 | Myasthenic syndrome, congenital, 5 | 603 034 | Ephedrine, salbutamol | Fatigue improved on salbutamol for 1 year, they avoid mestinon; used to get tired after 10 steps, can now take 50 steps. He can ride his bike and plays football. His father states his recovery is 40%. |
| AASS n = 1 | Hyperlysinaemia type 1 | 238 700 | Dietary lysine restriction | Initiated, will be followed up |
| MMAA n = 1 | Methylmalonic aciduria, cb1A type | 251 100 | Vitamin B12 | Initiated, will be followed up |
| SLC39A8 n = 1 | Congenital disorder of glycosylation, type IIn | 616 721 | Galactose and manganese | Discussed with the family, scheduled for follow up |
| CHRND n = 1 | Myasthenic syndrome, congenital, 3 | 100 720 | Pyridostigmine | Improved muscle strength |
| HMBS n = 1 | Porphyria, acute intermittent, AD | 176 000 | Hemin, liver transplantation | Discussed with the family, scheduled for follow up |
| CLCN1 n = 2 | Myotonia congenita, autosomal recessive | 255 700 | Mexiletine, quinine, acetazolamide | Mexiletine not available, others started |