In girls, the genitalia may appear as male. Serious loss of body salt and water, even death, may occur in either sex. Treatments are available to correct the condition. This kind of metabolic crisis can sometimes lead to seizures, failure to breathe, cardiac arrest and death. The main focus of treatment is to prevent a metabolic crisis from happening.
Treatment is effective and focuses on preventing long fasts.
Information on MCAD from the University of Washington, Seattle Information on MCAD from OMIM 7. This disorder is caused by not being able to break down several amino acids. It can result in mental retardation, seizures or death. The name of the disorder comes from the distinctive maple syrup odor of the urine. When found early, infants are put on a special diet to avoid the severe effects of the disease.