About
Maple syrup urine disease (MSUD) is a condition in which the body is unable to break down certain proteins. The condition is named for the sweet odor of the urine of untreated babies. Individuals with MSUD have trouble breaking down certain amino acids, the building blocks of proteins. Early detection and treatment can often prevent many of the serious outcomes of MSUD. Forms of MSUD vary widely in the severity of signs. “Classic MSUD” is the most common form and is seen in babies. Babies with classic MSUD usually begin showing signs shortly after birth. These signs include poor appetite, trouble sucking during feeding, weight loss, high pitched cry, urine that smells sweet like maple syrup or burnt sugar, sleeping longer or more often, tiredness, irritability, vomiting, and developmental delays. Many of these signs may occur when a baby eats foods the body cannot break down. Symptoms can be triggered by long periods of time without eating, illnesses, and infections.
Condition Type:
Core Conditions
Frequency:
Maple syrup urine disease (MSUD) affects 1 of every 185,000 babies born worldwide.
More Information for Parents:
Also known as:
- MSUD
- Ketoacidemia
- Branched-chain alpha-keto acid dehydrogenase deficiency
- Branched-chain ketoaciduria
- BCKD deficiency
Core Conditions
- Propionic Acidemia (PROP)
- Methylmalonic Acidemia (Methylmalonyl-CoA Mutase Deficiency) (MUT)
- Methylmalonic Acidemia (Cobalamin Conditions)
- Isovaleric Acidemia (IVA)
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)
- 3-Hydroxy-3-Methylglutaric Aciduria (HMG)
- Holocarboxylase Synthetase Deficiency (MCD)
- Beta-Ketothiolase Deficiency (BKT)
- Glutaric Acidemia, Type I (GA-1)
- Guanidinoacetate Methyltransferase (GAMT) Deficiency
- Mucopolysaccharidosis, Type II (MPS II)
- Biotinidase Deficiency (BIOT)
- Critical Congenital Heart Disease (CCHD)
- Cystic Fibrosis (CF)
- Classic Galactosemia (GALT)
- Hearing Loss or Varying Hearing Levels
- Severe Combined Immunodeficiency (SCID)
- X-Linked Adrenoleukodystrophy (X-ALD)
- Pompe
- Spinal Muscular Atrophy (SMA)
- Mucopolysaccharidosis, Type I (MPS I)
Secondary
- Citrullinemia, Type II (CIT II)
- Hypermethioninemia (MET)
- Benign Hyperphenylalaninemia (H-PHE)
- Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
- Biopterin Defect in Cofactor Regeneration (BIOPT-REG)
- Ornithine Transcarbamylase Deficiency (OTC)
- Carbamoyl Phosphate Synthetase Deficiency (CPS)
- Tyrosinemia, Type II (TYR II)
- Tyrosinemia, Type III (TYR III)