Homocystinuria is a rare constitutional aminoacidopathy characterized by elevated plasma and urinary homocysteine levels, most often due to cystathionine beta-synthase (CBS) deficiency, and represents the second most frequent metabolic encephalopathy after phenylketonuria. We rep...
Open access
Research Article10.9734/ajarr/2025/v19i101185
Acute staphylococcal epidermolysis, also known as staphylococcal scalded skin syndrome (SSSS), in young children is caused by the release of exfoliative toxins A and B (ETA and/or ETB) from an initial outbreak which can be ear-nose-throat, conjunctival or cutaneous. Staphylococca...
Open access
Research Article10.9734/ajpr/2021/v7i330215
Vitamin B12 deficiency is a well-recognised cause of neurodevelopmental disorders and psychomotor regression in pediatric patients. In developed countries, infant B12 deficiency most commonly occurs in exclusively breastfed infants whose mothers have subclinical or overt B12 defi...
Open access
Research Article10.9734/ajpr/2025/v15i9473
Background: The most prevalent form of Congenital adrenal hyperplasia (CAH) is 21-hydroxylase deficiency (21-OHD), which accounts for over 90% of CAH cases. This enzymatic defect results in decreased cortisol and aldosterone synthesis, leading to compensatory adrenocorticotropic...
Open access
Research Article10.9734/ajarr/2025/v19i81132