Mucopolysaccharidosis type 3B

MONDO:0009656

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.

Also known as: MPS III B, MPS3B, MPSIIIB, N-acetyl-alpha-glucosaminidase deficiency, Sanfilippo B, Sanfilippo syndrome B, Sanfilippo syndrome type B, mucopolysaccharidosis type 3B

9 clinical trials for this condition and its sub-types, 6 tagged with Mucopolysaccharidosis type 3B itself.

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Where it sits in the disease tree

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Part of

↑ Lysosomal storage disease with skeletal involvement (64) ↑ Mucopolysaccharidosis type 3 (18)

Including sub-types (9) Tagged with Mucopolysaccharidosis type 3B (6)

Trials to join now! 3 Not yet recruiting 2 Not yet finished but already full! 1

New york program offers extra screening for 100,000 newborns

Diagnosis By invitation only

ScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…

Sponsor: Albert Einstein College of Medicine • Aim: Diagnosis

Last updated Jul 30, 2026 00:00 UTC

Mucopolysaccharidosis type 3B

Where it sits in the disease tree

New york program offers extra screening for 100,000 newborns