Maple sugar urine disease

maple syrup urine disease facts

DNPH or specialised dipsticks may be used to test the patient's urine for ketones a sign of metabolic decompensationwhen metabolic stress is likely or suspected. Some children with maple syrup urine disease MSUD have developmental delays.

Initiation of dietary management usually begins in the newborn period following a positive NBS result and clinical confirmation. During catabolic states, clinical and biochemical features of the classic form may arise in patients, and should be controlled similarly to individuals with the severe form.

Every such episode has the potential to turn into a metabolic catastrophy and must be treated as vigorously as any episode in a newborn.

maple syrup urine disease pathophysiology

Standard Therapies Treatment The treatment of classic, intermediate, intermittent, and thiamine-responsive MSUD has two chief components: lifelong therapy to maintain acceptable amino acid levels in the body and immediate medical intervention for metabolic crises.

A carrier for MSUD has one pathogenic variant in one of the previously described genes. Increased BCAA levels within the body due to pathogenic defects in these components cause MSUD, leading to a variety of symptoms mentioned above, including dysfunction of the immune system, skeletal muscle, and central nervous system CNS.

Diagnosis through DNA testing is readily available and prenatal diagnosis is available. In addition, insulin may be used to stimulate a metabolic process known as anabolism.

Pregnancy and lactation Unlike other inborn errors of metabolism, there are insufficient data concerning the potential harmful effects of elevated BCAAs on the developing fetus.

IV insulin should be considered to promote anabolism and should also be used to control the increase in glucose levels after the use of IV dextrose.

The clinical presentation of MSUD depends on the BCKAD residual activity, although the phenotypic classification relies on the leucine tolerance and metabolic response to illness. It can also be uncomfortable for some young adults to continue to receive care through a facility for children.

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Maple Syrup Urine Disease (MSUD)