Blog
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Sudden Infant Death Syndrome (SIDS) is a significant cause of infant death worldwide 1, and recent…
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When we think of genetic carriers—individuals who inherit one mutated allele for an autosomal recessive condition—we…
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Newborn blood spot screening, commonly called the heel prick test, is a crucial public health initiative…
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Introduction Newborn screening is designed to identify various conditions, including metabolic disorders. There is significant variation…
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Hyperphenylalaninemia (HPA) is a metabolic disorder characterized by elevated levels of the blood’s amino acid phenylalanine…
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Phenylketonuria (PKU) is a genetic disorder that affects how the body processes an amino acid called…
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Amino acid metabolism disorders are a diverse group of conditions caused by genetic defects in the…
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Inborn errors of metabolism, although individually rare, collectively have a significant incidence1. These disorders typically result…
Scientific Knowledge & Personal Nutrition Stories for Rare Metabolic Conditions 