An Introduction to Pharmacotherapy for Inborn Errors of Metabolism

Abstract

Inborn errors of metabolism comprise a wide array of diseases and complications in the pediatric patient. The rarity of these disorders limits the ability to conduct and review robust literature regarding the disease states, mechanisms of dysfunction, treatments, and outcomes. Often, treatment plans will be based on the pathophysiology associated with the disorder and theoretical agents that may be involved in the metabolic process. Medication therapies usually consist of natural or herbal products. Established efficacious pediatric doses for these products are difficult to find in tertiary resources, and adverse effects are routinely limited to single case reports. This review article attempts to summarize some of the more common inborn errors of metabolism in a manner that is applicable to pharmacists who will provide care for these patients.

Knowledge and perception of inborn errors of metabolism (IEMs) among healthcare students at a selected public university in Klang Valley, Malaysia

“…The significance difference in perception between the students from the three different faculties may be because pharmacy and health sciences students are more likely to utilize IEM-related knowledge during clinical practice than dentistry students. Furthermore, the treatment of IEMs mainly involves pharmacotherapy treatments, in which a pharmacist plays an important role (11). Apart from that, other allied healthcare professionals; such as dietitians, physiotherapists, and occupational therapists; are a part of the holistic approach of treating and caring for IEM patients (34).…”

“…Basic laboratory tests; such as blood or urinalysis; can be used in conjunction with clinical evaluation to obtain a differential diagnosis or confirm a diagnosis (7). Meanwhile, the long-term care and treatment of IEM patients involves collaboration of healthcare professionals from multiple disciplines; such as physicians, nurses, pharmacists, dietitians, laboratory practitioners, speech therapists, occupational therapists, dentists, and social workers (8)(9)(10)(11)(12)(13)(14). A multidisciplinary team is essential and crucial to provide IEM patients with better quality health care in terms of treatment, psychological support, and educational resources (15).…”

Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism

“…Early detection and diagnosis of inborn errors of metabolism (IEMs) are imperative because many conditions are amenable to treatment, and sequelae that develop before therapy is initiated are often irreversible. 1 , 2 , 3 Newborn screening (NBS) is the first-tier assessment of IEMs and aims to identify apparently healthy newborns with serious conditions to improve neonatal and lifelong health outcomes. As a result of advances in tandem mass spectrometry technology, NBS has expanded, and 49 metabolic conditions, including 25 core conditions and 24 secondary conditions, are currently listed on the Recommended Uniform Screening Panel (RUSP) with variations in different states.…”

Radiosynthesis, Preclinical, and Clinical Positron Emission Tomography Studies of Carbon-11 Labeled Endogenous and Natural Exogenous Compounds

“…Hippuric acid is also associated with inborn errors of metabolism such as phenylketonuria, propionic acidemia, and tyrosinemia I. 830 • Lactic acid, an endogenous compound, is produced by reducing pyruvate in a reversible process catalyzed by Llactate dehydrogenase, which is predominantly located in the cytosol of human cells. Lactate removal occurs via oxidation back to pyruvate, followed by oxidation to CO 2 to produce energy or gluconeogenesis to produce glucose.…”

“…The phenols are first converted to benzoic acid and then to hippuric acid and excreted in the urine. Hippuric acid is also associated with inborn errors of metabolism such as phenylketonuria, propionic acidemia, and tyrosinemia I Lactic acid, an endogenous compound, is produced by reducing pyruvate in a reversible process catalyzed by l -lactate dehydrogenase, which is predominantly located in the cytosol of human cells.…”