Propionic acidaemia: demographic characteristics and complicationsa

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BACKGROUND: Propionic acidaemia is a global, metabolic disease, highly prevalent in Kingdom of Saudi Arabia. It may produce an array of complications which significantly deteriorate the patient's quality of life. OBJECTIVES: To find out the demographic characteristics and complications of patients with propionic acidemia. METHODS: The records of diagnosed cases of propionic acidaemia were reviewed, retrospectively. RESULTS: Of 24 patients, 16 (67%) were male. Consanguineous parents were 16 (67%). Ten (42%) patients had diseased siblings. Mean age at diagnosis was 0.13±0.27 year. Twenty-two (92%) patients had early onset and 2 (8%) had late onset disease. Eighteen (75%) patients had developmental delay, 11 (46%) had hypotonia, 3 (12%) had hypertonia, 13 (54%) had hyperreflexia and 12 (50%) had seizures. Two (8%) children each, had intracranial haemorrhage, spastic quadriplegia, hemiplegia and 1 (4%) had paraplegia. Cerebral atrophy and nasogastric/gastrotomy, tube feeding, each was found in 6 (25%) patients. Under nutrition was revealed in 20 (83%), short stature in 18 (75%), rickets in 1 (4%) and pancreatitis in 2 (8%) patients. During metabolic crisis, cerebral oedema and pancytopenia each were found in 4 (17%), hypoglycaemia in 6 (25%), hyperglycaemia in 2 (8%), hyperammonaemia in all 24 (100%) and metabolic acidosis in 20 (83%) cases. CONCLUSION: Propionic acidaemia is a rare hereditary disorder that has wide spectrum of neurological and other complications, which perhaps with early diagnosis and intervention may be preventable, more effectively.