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Condition report · Metabolic

Alpha-Mannosidosis and Glycoproteinoses

Inherited lysosomal storage diseases in which sugar chains from glycoproteins cannot be broken down, including alpha-mannosidosis, fucosidosis, aspartylglucosaminuria, sialidosis and galactosialidosis. Mucolipidoses have their own report.

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

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The 7 conditions we analyse

Alpha-mannosidosis

Autosomal recessive

Hearing loss, intellectual disability, coarse features, skeletal changes and frequent infections, caused by MAN2B1 variants.

What a diagnosis changes

Enzyme replacement therapy (velmanase alfa) is available for non-neurological features, and stem cell transplant is an option in some children.

Genes analysed

Also known as

Alpha mannosidase B deficiency; lysosomal alpha-D-mannosidase deficiency; mannosidosis, alpha B lysosomal; mannosidosis, alpha-, types I and II; MANSA

Includes 3 related subtypes ↓
  • alpha-mannosidosis type 1
  • alpha-mannosidosis, adult form
  • alpha-mannosidosis, infantile form
MONDO:0009561OMIM 248500Orphanet 61MedGen 7467

Beta-mannosidosis

Autosomal recessive

Variable intellectual disability, hearing loss and behavioural problems, caused by MANBA variants.

Genes analysed

Also known as

Beta-mannosidase deficiency; lysosomal beta-mannosidase deficiency; mannosidosis, BETA A, lysosomal; MANSB

MONDO:0009562OMIM 248510Orphanet 118MedGen 888408

Fucosidosis

Autosomal recessive

Progressive neurological decline, coarse features, angiokeratomas and skeletal changes, caused by FUCA1 variants.

Genes analysed

Also known as

Alpha-L-fucosidase deficiency; lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues

MONDO:0009254OMIM 230000Orphanet 349MedGen 5288

Aspartylglucosaminuria

Autosomal recessive

Slowly progressive intellectual disability, behavioural changes and mild coarse features beginning in childhood, caused by AGA variants; more common in Finland.

Genes analysed

Also known as

AGU; Aspartylglucosamidase (AGA) deficiency; aspartylglucosaminidase deficiency; Aspartylglycosaminuria; glycosylasparaginase deficiency

MONDO:0008830OMIM 208400Orphanet 93MedGen 78649

Sialidosis (mucolipidosis I)

Autosomal recessive

Ranges from cherry-red spots with myoclonus in adolescence (type 1) to severe infantile disease with coarse features and skeletal changes (type 2), caused by NEU1 variants.

Genes analysed

Includes 4 related subtypes ↓
  • congenital sialidosis type 2
  • juvenile sialidosis type 2
  • sialidosis type 1
  • sialidosis type 2
MONDO:0017734Orphanet 309294MedGen 120621

Galactosialidosis

Autosomal recessive

Combined deficiency of neuraminidase and beta-galactosidase causing coarse features, cherry-red spots, myoclonus and organ enlargement, caused by CTSA variants.

Genes analysed

Also known as

cathepsin A deficiency of; Goldberg syndrome; GSL; lysosomal protective protein deficiency of; neuraminidase deficiency with beta-galactosidase deficiency

MONDO:0009737OMIM 256540Orphanet 351MedGen 82779

Alpha-N-acetylgalactosaminidase deficiency (Schindler and Kanzaki disease)

Autosomal recessive

A spectrum from infantile neuroaxonal dystrophy to adult-onset angiokeratomas, caused by NAGA variants.

Genes analysed

Also known as

alpha-N-acetylgalactosaminidase activity disease; disorder of alpha-N-acetylgalactosaminidase activity; NAGA deficiency; Schindler disease

Includes 3 related subtypes ↓
  • alpha-N-acetylgalactosaminidase deficiency type 1
  • alpha-N-acetylgalactosaminidase deficiency type 2
  • alpha-N-acetylgalactosaminidase deficiency type 3
MONDO:0017779Orphanet 3137MedGen 1845666

Other metabolic conditions

All conditions →

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