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) |