Table 3.
Clinical presentation and outcomes of patients with Organic acid disorders and Urea cycle defects.
Type of disorder No. (%) | Main features | Outcome alive/died | Age at onset median (range) | Age at diagnosis median (range) |
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OA 10(9.3%) | ||||
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-PA 4(4o) | Vomiting, dehydration, lethargy acidosis | Alive 2 with mild global delay | 14d (10–40) | 1.5m (1–4) |
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-MMA 4(40) | Vomiting, reluctant to feed, acidosis, hypotonia | Alive, well | 1.5m (1–4) | 2.5m (2–5) |
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-IVA 1(10) | Feeding difficulties, acidosis | Died in 1 month | 2m | 3m |
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-GA 1(10) | Seizures, dystonic movements | Well no more crisis | By newborn screen | 1m |
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UCD 3(2.8%) | ||||
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-OTC 2(66.6) | Seizures | Developmental delay | 12m (10–14) | 15m (12–18) |
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Citrullinemia type 1 1(33.3) | Episodes of vomiting, failure to thrive | Alive | 8m | 10m |
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Note: OA: Organic acid, PA: Propionic aciduria, MMA: Methylmalonic aciduria, IVA: Isovaleric aciduria, GA: Gluteric aciduria, UCD: Urea cycle defect and OTC: Ornithine transcarbamylase deficiency.