![]() We review this disorder including its presentation, screening and clinical diagnosis, treatment, and other relevant aspects pertaining to the care of patients.īCKDHA BCKDHB DBT alloisoleucine branched-chain amino acids maple syrup urine disease newborn screening. Newborn screening for MSUD is now commonplace in the United States and is included on the Recommended Uniform Screening Panel (RUSP). ![]() Benign prostatic hypertrophy (enlarged prostate) Retention of urine due to occlusion of foley catheter Urinary retention caused by blocked foley catheter Urinary retention due to benign prostatic hypertrophy, if applicable, any causal condition, such as. Clinical outcomes are generally good in patients where treatment is initiated early. 'Maple-syrup-urine disease' References in the ICD-10-CM Index to Diseases and Injuries. ICD-10-CM Diagnosis Code R33.8 convert to ICD-9-CM Other retention of urine. Treatment consists of dietary restriction of BCAAs and close metabolic monitoring. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated. The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. For claims with a date of service on or after October 1, 2015, use an equivalent ICD-10-CM code (or codes).
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