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Condition report · Metabolic

Maple Syrup Urine Disease

An inherited disorder in which the body cannot break down the branched-chain amino acids leucine, isoleucine and valine. It is included in many newborn screening programmes and is managed with a lifelong specialised diet.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Autosomal recessive

Caused by variants in BCKDHA, BCKDHB or DBT, which can cause a sweet-smelling urine, poor feeding and, without treatment, brain swelling and metabolic crises.

What a diagnosis changes

Knowing allows a protein-modified diet, close monitoring of leucine levels and emergency care during illness, which can prevent brain injury.

Genes analysed

Also known as

BCKD deficiency; BCKDH deficiency; branched chain ketoaciduria; branched-chain 2-ketoacid dehydrogenase deficiency; Ketoacidaemia; maple syrup urine disease, type 1A; maple syrup urine disease, type 1B; maple syrup urine disease, type 2; MSUD

Includes 9 related subtypes ↓
  • classic maple syrup urine disease
  • intermediate maple syrup urine disease
  • intermittent maple syrup urine disease
  • maple syrup urine disease type 1A
  • maple syrup urine disease type 1B
  • maple syrup urine disease type 2
  • maple syrup urine disease, mild variant
  • pyruvate dehydrogenase E3 deficiency
  • thiamine-responsive maple syrup urine disease
MONDO:0009563Orphanet 511MedGen 6217

Other metabolic conditions

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