How to Treat MSUD

Maple syrup urine disease, also sometimes called branched chain ketoaciduria, is a serious metabolic disorder, genetic in origin, that requires a strict diet and regular professional care to treat. If detected early and treated properly, parents can help their infants avoid the extremely serious neurological complications that characterize the disease's pathology.

Instructions

Difficulty: Challenging

1. Understand the nature of MSUD. The disorder is characterized by the deficiency of a metabolic enzyme known as "BCKDH." This results in a toxic buildup amino acids in both the bloodstream and the infant's urine. The urine, in turn, has a strong and distinctive odor of maple syrup or burned caramel.
2. Know that the primary means by which to avoid the harrowing physical and mental complications of the disease is through diet management. The MSUD diet will be low in the amino acids the patient cannot metabolize.
3. Treat MSUD in infants by feeding them a specially-concocted MSUD formula that eliminates the problematic amino acids by substituting them with safe synthetic replacements. This fosters proper and complete nutrition while avoiding the problematic amino acids. Enfamil and Similac are two common MSUD-safe brands of formula. Your physician and dietician will be able to make more specific recommendations. Follow their advice.
4. Remember that children with MSUD, as they grow up, will have to continue to take a special formula on a daily basis in addition to observing strictly limited intake of proteins. While the formula is not the same as what is fed to MSUD-carrying infants, it performs the same essential function of providing proper nutrition without introducing the unwanted amino acids.
5. Know that a doctor must regularly monitor the amino acid levels in the bloodstream of MSUD patients. Due to the sensitive and sometimes-unpredictable nature of the disease, regular checkups are absolutely necessary to ensure amino acid levels remain safe at all times.
6. Understand that this later-childhood formula is supplemented by a strictly controlled diet. Everything the child eats must be weighed, have a known and acceptable level of protein and amino acids and be tracked as part of the diet program.
7. Remember that the MSUD diet must be followed for life to effectively treat the disease. While your physician and dietitian will help you fill in the specifics, in general, the diet severely restricts protein intake. Meat, fish, eggs, nuts, legumes and most dairy products must be avoided entirely.

Tips & Warnings

• Untreated MSUD rapidly and almost invariably results in seizures, coma and death in infants. Prompt action is absolutely necessary if you have any reason to suspect your baby might have been born with MSUD.

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