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. 2013 Dec 23;2013(2):57–65. doi: 10.5339/qmj.2013.18

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)

OA 10(9.3%)

-PA 4(4o) Vomiting, dehydration, lethargy acidosis Alive 2 with mild global delay 14d (10–40) 1.5m (1–4)

-MMA 4(40) Vomiting, reluctant to feed, acidosis, hypotonia Alive, well 1.5m (1–4) 2.5m (2–5)

-IVA 1(10) Feeding difficulties, acidosis Died in 1 month 2m 3m

-GA 1(10) Seizures, dystonic movements Well no more crisis By newborn screen 1m

UCD 3(2.8%)

-OTC 2(66.6) Seizures Developmental delay 12m (10–14) 15m (12–18)

Citrullinemia type 1 1(33.3) Episodes of vomiting, failure to thrive Alive 8m 10m

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.