Cataract should be removed early in order to avoid amblyopia. The early use of eye glasses or contact lenses improves visual function and consequently psycho-social skills. The ocular tone has to be tested frequently in order to diagnose glaucoma early and to treat it either with anti-glaucoma medication, or gonial or trabeculotomy surgery. Conjunctival or corneal cheloids are difficult to treat. Surgical lens implantation is not recommended; spectacles are to be preferred to contact lenses.
Early targeted rehabilitation therapy is necessary to treat hypotonia and its complications. Tube feeding is not necessary in the early stages of the disease. An adequate psychological, pedagogical and occupational programme favours learning capacity and prevents frequent and serious behavioural crises during adolescence.
Areflexia is a peculiar state, which does not require treatment. Seizures require treatment with drugs specific for the symptoms. The behavioural problems occurring during adolescence and the obsessive-compulsive disorder require specific competence on the part of the health staff.
Drugs such as neuroleptics, stimulants, benzodiazepines, anti-depressives (tricyclic antidepressants and serotonin reuptake inhibitors) although adequately prescribed, are only partially efficacious. More promising results appear to be found with clomipramine, paroxetine and risperidone.
Renal tubular acidosis must be recognised and treated promptly with alkali supplements. These include citrates (sodium and/or potassium citrate) and sodium bicarbonate in variable doses and combinations, to maintain serum bicarbonate levels at around 20 mEq/l (doses may vary between 1–8 mEqKg/day, which should be divided into at least three separate doses).
Potassium citrate is particularly useful as it also helps to prevent nephrocalcinosis and tends to reduce renal calcium excretion.
If polyuria is present, patients should receive supplementary fluid. Sodium intake should be adjusted according to the extent of renal salt loss.
In infants and very young children, oral supplements should be promptly adjusted in case of diarrhoea. Intravenous infusions may be needed.
Rickets should be treated with oral phosphate supplements and vitamin D. Excessive amounts of vitamin D should be avoided as they may increase renal calcium excretion. Treatment should be targeted towards maintaining serum calcium and parathormone (PTH) levels within normal range and serum phosphate levels above 2–2.5 mg/dl.
Currently, there is no evidence that increasing the dietary protein content above normal recommendations is of benefit for these patients. Similarly, there is no evidence that Lcarnitine produces any improvement.
Muscle and skeletal anomalies
Preventive treatments for the most common musculoskeletal complications are required to maintain articular mobility in order to avoid contractures. Osteopaenia and pathological fractures should be prevented by correct treatment of rickets. Standardised therapies (including the use of a corset and, if necessary, surgery) are required to prevent scoliosis.
Other clinical signs
Cryptorchidism may improve with hormonal treatment and surgery is rarely required. Use of recombinant human growth hormone should be limited to patients with demonstrable growth hormone deficiency.