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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