Table 1 Clinical and anthropometric details of MPS IVA patients in the present study
Patient ID | Age (in years) | Sex | Religion (Region) | Consanguinity | Phenotype | Additional features | GALNS enzyme activity (nmol/hr/mg protein) [NR: 14–32 nmol/hr/mg protein] | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Short stature | Pectus carinatum | Kyphosis | Scoliosis | Genu valgum | Platyspondyly | Anterior beaking of bone | |||||||
P1 | 3 | Female | Hindu (Gujarat) | No | - | - | ✔ | - | - | - | ✔ | Short fingers, strabismus, hepatomegaly | 6.0 |
P2 | 1.9 | Male | Hindu (Gujarat) | No | - | ✔ | ✔ | - | - | - | ✔ | Lumbar lordosis, upper femoral epiphysis, pleural effusion | 3.7 |
P3 | 0.9 | Female | Muslim (Gujarat) | Yes | - | - | ✔ | ✔ | - | - | - | Gibbus | 0.75 |
P4 | 1.5 | Male | Muslim (Gujarat) | Yes | - | - | - | - | - | - | ✔ | Pointed appearance of bones of metacarpals of both hands, bilateral deformity of lower ends of radius and ulna, distal ends of proximal phalanges of fingers are pointed | 11.1 |
P5 | 8 | Female | Hindu (Gujarat) | No | ✔ | - | ✔ | - | ✔ | - | ✔ | Skeletal deformity, extended neck, delayed motor development, frontal bossing, corneal clouding, short neck and trunk, widening of wrist and elbow, mild hypotonia, distal ends of proximal phalanges of fingers are pointed, shortening of metacarpal bones | 4.8 |
P6 | 1 | Female | Hindu (Gujarat) | No | - | - | ✔ | ✔ | - | ✔ | ✔ | Large skull, frontal bossing, wide ribs, bullet shaped phalanges, wide ribs | 4.15 |
P7 | 2 | Male | Hindu (Gujarat) | No | ✔ | - | ✔ | - | - | - | - | Hydrocephalus | 4.3 |
P8 | 6 | Male | Darbar (Gujarat) | Yes | ✔ | ✔ | - | ✔ | ✔ | - | - | Rickets | 5.6 |
P9 | 2 | Male | Hindu (Gujarat) | No | - | - | ✔ | - | - | ✔ | - | Bullet-shaped metacarpals, bilateral hip dysplasia | 7.7 |
P10 | 1 | Male | Hindu (Gujarat) | No | - | - | ✔ | - | - | ✔ | - | Abnormal bilateral capital femoral epiphysis | 3.0 |
P11 | 6 | Male | Hindu (Gujarat) | No | ✔ | - | - | - | - | - | - | Short neck and short fingers | 1.1 |
P12 | 1.7 | Female | Hindu (Gujarat) | No | - | - | - | - | - | - | - | Coarse face, skeletal abnormality, gait disturbance | 0.2 |
P13 | 2.5 | Male | Hindu (Gujarat) | No | - | - | - | - | ✔ | ✔ | ✔ | Bullet-shaped phalanges, shortening of metacarpal bones, subluxation of distal radio-ulna joint, distorted/ sclerotic shallow acetabulum | 0.05 |
P14 | 3.7 | Female | Hindu (Gujarat) | No | ✔ | - | - | - | ✔ | - | ✔ | Acetabulum dysplasia, epiphyseal dysplasia, prominent metaphysis mainly at knee and wrist, ulnar deviation at wrist, short palm and fingers, bullet shaped metacarpals | 0.37 |
P15 | 4 | Female | Hindu (Gujarat) | No | ✔ | - | - | - | - | - | ✔ | Large skull, short and wide metacarpals with pointed base, Madelung deformity in wrist, wide gait, shoulder contractures | 0.08 |
P16 | 12 | Female | Hindu (Gujarat) | No | ✔ | ✔ | - | - | - | ✔ | - | Bilateral lower and upper limb weakness, deformity of upper limbs, unable to walk, spinal canal narrowing, deep acetabulum, corneal opacity | 3.4 |
P17 | 21 | Male | Hindu (Gujarat) | No | - | - | - | - | - | - | - | Skeletal dysplasia | 0.03 |
P18 | 5 | Male | Javia (Gujarat) | No | ✔ | - | - | - | ✔ | - | - | Ankle deformity, bilateral Plano valgus feet, spondylo epiphyseal dysplasia | 0.25 |
P19 | 3.5 | Male | Muslim (Gujarat) | Yes | ✔ | - | - | - | - | - | - | Dysostosis multiplex, Coarse face | 0.04 |
P20 | 4 | Female | Muslim (Gujarat) | Yes | ✔ | - | - | - | ✔ | - | - | Lumbar lordosis, wrist widening, bilateral flattened sclerotic femoral head | 0.8 |
P21 | 1.6 | Male | Hindu (Gujarat) | No | - | - | ✔ | ✔ | - | - | ✔ | Short metacarpals with pointed proximal ends, mild narrowing of foramen magnum with cord compression and focal significant cord oedema at C1-C2 level | 0.02 |
P22 | 6 | Female | Muslim (Gujarat) | Yes | - | ✔ | - | - | ✔ | - | - | Coarse face, increased wrist angle | 0.025 |
P23 | 2 | Female | Muslim (Gujarat) | Yes | - | - | - | - | - | - | - | Skeletal dysplasia | 0.33 |