Journal of Pediatric Biochemistry - Volume 4, issue 4

Authors: Andrea L. Gropman,

Article Type: Other

DOI: 10.3233/JPB-140124

Citation: Journal of Pediatric Biochemistry, vol. 4, no. 4, pp. 181-182, 2014

Authors: Gropman, Andrea L.

Article Type: Research Article

Abstract: In the clinical management of inborn errors of metabolism (IEMs) a central focus is on protecting the central nervous system (CNS) from the toxic effects of the metabolic dysfunction. Despite our ability to screen for and detect many of these conditions in the newborn period, making early treatment possible, cognitive abnormalities may still result because of our inability to identify and alter the early steps in brain pathology. A key in preventing neurological imaging is the …understanding the steps in the brain injury and the time course of injury in order that physicians may intervene. Since the infant who is comatose does not give us clues as to whether it is due to infection, inborn errors of metabolism and which one, seizures or other causes based on examination alone. Therefore, neuroimaging may provide biomarkers for diagnosis and prognosis. This review will discuss use of neuroimaging in inborn errors of metabolism of acutely ill infants. Show more

Keywords: Central nervous system (CNS), inborn errors of metabolism (IEMs), magnetic resonance imaging (MRI)

DOI: 10.3233/JPB-140125

Citation: Journal of Pediatric Biochemistry, vol. 4, no. 4, pp. 183-191, 2014

Authors: Chapman, Kimberly A.

Article Type: Research Article

Abstract: Systemic organic acidemias are intoxication-type inborn errors of metabolism which can present in the neonatal period and beyond with metabolic acidosis, vomiting, and lethargy, and progress to coma and without adequate treatment ultimately death. There should be a low threshold for consideration of this family of disorders in individuals that present with the above symptoms, present with a sepsis-like picture, have developmental delay or intellectual disability, or develop disease-specific long term complications …(e.g., cardiomyopathy seen in propionic acidemia, renal failure seen in the methylmalonic acidemias). Late diagnosis with intellectual disabilities or disease-specific complications are thought to becoming less common in areas with universal newborn screening since it includes many of these disorders and allows for early treatment and avoidance of severe presentations. In general, treatment in the acute setting focuses on decreasing toxin production by reversal of catabolism, removal of toxin precursors, use of toxin scavengers (e.g., levocarnitine to bind propionic acid in propionic acidemia) and attempting to improve enzyme function by using supra-physiologic doses of cofactors. Long term therapy has similar approaches. Show more

Keywords: Organic acidemia, metabolic acidosis, treatment, diagnosis

DOI: 10.3233/JPB-140126

Citation: Journal of Pediatric Biochemistry, vol. 4, no. 4, pp. 193-200, 2014

Authors: Saneto, Russell P.

Article Type: Research Article

Abstract: Mitochondrial disease has only been genetically defined since the late 1980's, yet the pathophysiology of mitochondrial function and genetics has altered the way we think of disease. Mitochondria have their own DNA and are independent replicating organelles that are bound to the energetic needs of cells. Diseases due to alteration in mitochondrial DNA are inherited exclusively via maternal inheritance. But disease can also be inherited in a Mendelian fashion. The cross-talk between genomes can create a …wide variety of diseases by altering mitochondrial function and hence, diminishing the availability of energy for cellular metabolism. As one would expect, the developing infant and/or child would have the greatest dependency on the need for energy to ensure proper development. Indeed, defects in mitochondrial function produce the most common inborn error of metabolism leading to disease. This review will highlight the pathophysiology behind mitochondrial dysfunction as well as describe the most common of the group of mitochondrial diseases found in this age range. Show more

Keywords: Mitochondria, electron transport chain, human disease, mitochondrial DNA, mitochondrial disease

DOI: 10.3233/JPB-140127

Citation: Journal of Pediatric Biochemistry, vol. 4, no. 4, pp. 201-215, 2014

Authors: Tanpaiboon, Pranoot

Article Type: Research Article

Abstract: Lysosomes are cytoplasmic organelles that play a major role in cellular metabolic salvage, necessary for cellular homeostasis. Besides, degrading several macromolecules in metabolic salvage process, lysosomes also involve in several cellular processes e.g. cell apoptosis and intracellular signaling. Lysosomal storage disorder (LSD) is a group of inherited metabolic disorders, which can present at any age from prenatal to adult. Pathology/pathophysiology usually engages several organ systems. Majority of diseases in this group involve …neurological system causing neurodegenerative manifestation. Biomarkers are not only available but also useful for disease screening and monitoring. Diagnosis should be confirmed by enzyme analysis and/or molecular analysis. Although treatment is available in some diseases, the outcomes are not favorable in selected patients, especially when present with neurological symptoms. Understanding the complexity of LSD is important for patients' care and development of new treatment. Appropriate genetic counseling should be provided to every patient. Show more

Keywords: Lysosomal storage disorders, LSD

DOI: 10.3233/JPB-140128

Citation: Journal of Pediatric Biochemistry, vol. 4, no. 4, pp. 217-229, 2014

Authors: Rocha, Carolina Tesi

Article Type: Research Article

Abstract: Metabolic myopathies refer to a group of heterogeneous hereditary muscle disorders associated with known enzymatic defects. These conditions affect the ability of muscle fibers to maintain adequate energy and adenosine triphosphate (ATP) concentrations. Conventionally these diseases are grouped into abnormalities of lipid, glycogen, purine or mitochondrial metabolism. This review will focus on current diagnosis and management of pediatric patients presenting with a suspected metabolic myopathy.

Keywords: Exercise intolerance, metabolic myopathy, cramps, weakness, rhabdomyolisis, myoglobinuria

DOI: 10.3233/JPB-140129

Citation: Journal of Pediatric Biochemistry, vol. 4, no. 4, pp. 231-248, 2014

Article Type: Other

Citation: Journal of Pediatric Biochemistry, vol. 4, no. 4, pp. 249-250, 2014