Anti-seizure medications are generally not effective, since they do not provide nourishment to the starved brain. Once diagnosed, a medically supervised ketogenic diet is usually recommended as it can help to control seizures. The ketogentic diet is the current standard of care treatment, with 80% of patients having >90% seizure reduction and improving some movement disorders in approximately two thirds of<unk>  patients. There is also some evidence of some cognitive benefits for<unk>  patients on a ketogenic diet, and most parents report improved energy, alertness, balance, coordination, and concentration, especially when the diet is started early in childhood. The ketogenic diet is a diet high in fat and low in protein and carbohydrates, with up to 90% of calories obtained from fat. Since the diet is low in carbohydrates, the body gets little glucose, normally the main energy source. The fat in the diet is converted by the liver in ketone bodies, which causes a build up of ketones in the blood stream, called ketosis. Ketone bodies are transported across the blood-brain barrier by other means than the<unk>  protein and thus serve as an alternative fuel for the brain when glucose is not available. While ketogenic diets have been proven effective to control seizures and relieve some movement disorders in many<unk>  patients, some patients do not respond as well as others. In addition, some critical symptoms, including cognitive deficits and certain movement difficulties, tend to persist in<unk>  patients treated by a ketogenic diet, raising the question whether<unk>  is caused simply by a lack of proper brain energy or if there are more complicated and widespread systems and processes affected. The ketogenic diet must be carefully crafted and tailored to meet the needs of each patient and reduce the risk of side effects. It should only be used under the care of medical professionals and dietitians, and it may take some time to establish the ideal ratio of fat versus proteins and carbohydrates and other diet variables for each individual patient to experience optimal tolerance and benefits. Variations on the ketogenic diet, including the Modified Atkins Diet, and diets based on MCT oil have also been shown to be beneficial for some<unk>  patients. While the classic ketogenic diet is commonly used for younger children, compliance with the ketogenic diet can be difficult for older children and adults. In recent years, the Modified Atkins Diet, and MCT oil based diets, have gained increasing acceptance among doctors treating these groups and may be more feasible for quality of life and compliance. There is growing empirical evidence that these diets can provide at least some of the benefits of the classical ketogenic diet for some<unk>  patients. Ketone esters are an area of dietary therapy currently under investigation for potential treatment of<unk>  and other medical conditions. Ketone esters are synthetic ketones that break down into natural ketones when metabolized. Ketone esters have been shown in recent research to improve seizures and movement disorders in<unk>  deficient mice, but human studies have not yet been conducted. Triheptanoin (C7 oil), a triglyceride oil synthesized from castor beans. is an investigational pharmaceutical-grade medical food that has shown potential as a treatment for a number of inherited metabolic diseases. When metabolized by the body, C7 oil produces ketones similar to those produced on a ketogenic diet in addition to other types of ketones that are thought to fulfill further metabolic requirements in the absence of sufficient glucose. A phase 3 clinical trial however failed to find an improvement in patients with<unk>  DS with disabling movement disorders. The inhibition of insulin production to increase glucose in the blood with the medicine diazoxide, in combination with continuous glucose monitoring, has been successful in one adolescent. The increased blood glucose also increases the availability of glucose in the brain, through the increased transfer of more glucose through the<unk> -protein. She became seizure-free, became more physically active and had improved cognition. Researchers are studying gene therapy as a possible effective treatment for<unk> . Therapies and rehabilitative services are beneficial since most<unk>  patients experience movement disturbances as well as speech and language disorders. Occupational, physical, and speech/language therapies are standard for most patients, especially in childhood. Many families greatly benefit from other therapies such as aquatic therapy, hippotherapy, specific learning strategies, and behavioral therapy.<unk> 1 patients Weak Areas are lowered IQ and adaptive behavior scores, expressive-language deficits, weakness in fine motor skills, limited visual attention to details, weakness in abstract analytical skills, and weakness in transfer of learning to new contexts. Strong Areas include receptive language or understanding, social skills, fun-loving and empathetic personalities, perseverance.
GLUT1 deficiency
Glutaminase deficiency
Glycerol kinase deficiency
WNT4 deficiency
Multiple carboxylase deficiency
Pyruvate kinase deficiency
2,4 Dienoyl-CoA reductase deficiency
NGLY1 deficiency