If adequate calories cannot be obtained from natural food without exceeding protein tolerance, specialised low protein products such as starch-based baking mixtures, imitation rice and pasta may be prescribed, often alongside a protein-free carbohydrate powder added to food and/or drink, and increased at times of metabolic stress. MSUD patients with thiamine- responsive MSUD can have a higher protein intake diet with administration of high doses of thiamine, a cofactor of the enzyme that causes the condition. The typical dosage amount of thiamine-responsive MSUD depends on the enzyme activity present and can range from 10 mg - 100 mg daily. Liver transplantation
Usually MSUD patients are monitored by a dietitian. Liver transplantation is a treatment option that can completely and permanently normalise metabolic function, enabling discontinuation of nutritional supplements and strict monitoring of biochemistry and caloric intake, relaxation of MSUD-related lifestyle precautions, and an unrestricted diet. This procedure is most successful when performed at a young age, and weaning from immunosuppressants may even be possible in the long run. However, the surgery is a major undertaking requiring extensive hospitalisation and rigorous adherence to a tapering regimen of medications. Following transplant, the risk of periodic rejection will always exist, as will the need for some degree of lifelong monitoring in this respect. Despite normalising clinical presentation, liver transplantation is not considered a cure for MSUD. The patient will still carry two copies of the mutated BKAD gene in each of their own cells, which will consequently still be unable to produce the missing enzyme.
Meacham syndrome is a rare genetic disorder which is characterized by lung, diaphragmatic and genitourinary anomalies. Signs and symptoms
Often people with this condition are born with both underdeveloped lungs and a herniated diaphragm. Urinary symptoms include a horseshoe kidney
Genital symptoms are different according to the biological sex of the baby, genetic males (46,XX) usually have pseudohermaphroditism, ambiguous genitalia, and perineal hypospadias. Genetic females (46,XX) often have septate uterus and duplication of the vagina. In some cases, karyotype is needed to know the biological sex of the baby.Additional symptoms include neoplasm, cryptorchidism, ventricular septal defect, atrial septal defect, hernia, patent ductus arteriosus, Tetralogy of Fallot, and penile hypoplasia. Causes
This condition is caused by an autosomal dominant missense mutation in the WT1 gene, in chromosome 11. This was found through two half-siblings reported by Suri et al. Epidemiology
According to OMIM, only 12 cases have been described in medical literature. == References ==