Propionic acidaemia: demographic characteristics and complicationsa
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Muhammad Rafique
Abstract
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.
Conflict of interest statement
Research funding: No financial support was provided by any organization for this study.
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Study site: This study was conducted in Central Aseer Hospital Abha, Kingdom of Saudi Arabia.
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©2013 by Walter de Gruyter Berlin Boston
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- Masthead
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- Editorial
- Success has many fathers, failure is orphan
- Review Article
- Normosmic idiopathic hypogonadotropic hypogonadism: update on the genetic background and future challenges
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- Temporary brittle bone disease: association with intracranial bleeding
- Asymmetric dimethylarginine (ADMA) and L-arginine levels in children with glycogen storage disease type I
- Application of liquid chromatography-tandem mass spectrometry in the diagnosis and follow-up of maple syrup urine disease in a Chinese population
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- The clinical and biochemical presentation of vitamin D deficiency and insufficiency in children and adolescents
- A risk score for identifying overweight adolescents with dysglycemia in primary care settings1)
- Thyroid function and morphology in overweight and obese children and adolescents in a Chinese population
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- Negative correlation between serum IL-6 level and cardiorespiratory fitness in 10- to 11-year-old boys with increased BMI
- Penile length and genital anomalies in Egyptian male newborns: epidemiology and influence of endocrine disruptors
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