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Table 1 Categorization and characteristics of IBEM patients

From: Spectrum of microarchitectural bone disease in inborn errors of metabolism: a cross-sectional, observational study

IBEM Category

Abbreviationa

N

% Females

Age (SD)

Disorders of metabolism with restricted diets

Disorders with restricted diets

18

50%

27.3 (14.6)

Glycogen storage disease Ia (n=5)

Galactosemia (n=4)

Isovaleric acidemia (n=1)

Phenylketonuria (n=1)

Homocystinuria (n=2)

Alkaptonuria (n=3)

Methylmalonic acidemia (n=1)

Cobalamin C deficiency (n=1)

Lysosomal Storage Diseases (LSD) with no primary skeletal pathology

LSD (skeletal)

16

69%

42.1 (14.1)

Fabry disease (n=16)

Osteopetrosis

Osteopetrosis

3

0%

24.1 (17.8)

Osteopetrosis (n=3)

Disorders associated with decreased bone mass mineralization

Bone mineralization disorders

13

62%

26.3 (25.1)

Osteogenesis imperfecta (n=5)

Juvenile osteoporosis (n=2)

Osteoporosis (n=3)

Amylogenesis imperfecta (n=2)

Albright hereditary osteodystrophy (n=1)

Hypophosphatasia

HPP

9

67%

26.3 (25.1)

Hereditary hypophosphatemic rickets

with hypercalciuria (n=1)

Hypophosphatasia (n=8)

Lysosomal Storage Diseases (LSD) with primary secondary changes in bone architecture or skeletal growth

LSD (non-skeletal)

17

59%

31.3 (21.5)

Gaucher disease (n=13)

Mucopolysaccharidosis type I (MPS I; n=1)

Mucopolysaccharidosis type II (MPS II; n=1)

Mucopolysaccharidosis type IV (MPS IV; n=1)

Alpha-mannosidosis (n=1)

Disorders of the nervous, muscular or skeletal system limiting mobility

Neuromuscular disorders

18

56%

39.5 (23.5)

Friedreich ataxia (n=1)

Pelizaeus-Merzbacher disease (n=1)

Multiple sclerosis (n=1)

Cerebral palsy (n=1)

Pompe disease (n=4)

Spinal muscular atrophy type I (n=1)

Mitochondrial disease (n=7)

Dilated cardiomyopathy with ataxia (DCMA) syndrome (n=2)

  1. aThe abbreviation is what the IBEM category will be referred to in text