Clinical Study
Clinical Spectrum of Propionic Acidaemia
Table 1
Data of 26 patients with PA.
| | Variable of patients | (%)/mean (SD) | Variables of patients | (%)/mean (SD) |
| | Male | 16 (61.5) | No. of admission/patient | 5.1 [] | | Female | 10 (38.5) | Frequency of admission/yr | 4.2 [] | | Mean age in yr | 2.85 [] | Early onset cases | 5.5 [] | | Consanguinity of parents | 24 (92.3) | Late onset cases | 2 | | H/O of PA in siblings | 10 (38.5) | Cerebral palsy | 4 (15.4) | | H/O NICU admission | 17 (63.4) | Seizures | 12 (46.2) | | No. of deceased patients | 2 (7.7) | Hypotonia | 11 (42.3) | | Time of clinical onset/diagnosis | | Hyporeflexia | 4 (15.4) | | 1st week of life (early onset) | 22 (84.6) | Hypertonia | 4 (15.4) | | 2nd week—3months (early onset) | 2 (7.7) | Hyperreflexia | 9 (34.6) | | >3 months of age (late onset) | 2 (7.7) | Patients were | | | Diagnosis age (range: 2 day–1yr) | 0.13 [] | On NG/G tube feeding | 4 (15.4) | | Mean % of weight for age | 72.4 [] | On home oxygen therapy | 2 (7.7) | | Mean % of height/length for age | 90.7 [] | Look after in social home | 2 (7.7) |
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Values are given in (%) or mean (SD); H/O: history of, NICU: neonatal intensive care unit, NG/G: nasogastric/gastrostomy tube.
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