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Inborn Error of Small Molecule Metabolism

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81. Infections in the Immunocompromised Host (Diagnosis)

, joint, peritoneal, wound, or ventricular access or drainage devices Internal foreign bodies [ ] Major surgery [ ] Treatment For leukemia or lymphoma Bone marrow or stem-cell transplantation Solid organ transplantation [ ] Therapy for autoimmune or inflammatory disorders TNF-alpha inhibitors [ ] Monoclonal antibodies and related small molecules Transfusion (which may lead to iron overload) Previous Next: Alternate Diagnoses Table. Differential Diagnoses Previous Next: Infections In general (...) , [ ] histoplasmosis, [ ] Listeria infection, [ ] and severe falciparum malaria. [ ] Other monoclonal antibodies and related small molecules have been associated with numerous infections. [ ] For example, therapy with eculizumab, a C5 inhibitor, is associated with invasive meningococcal infection. Similarly, treatment with natalizumab (for multiple sclerosis) is associated with progressive multifocal leukoencephalopathy. [ , ] Treatment with infliximab has been associated with disseminated cutaneous varicella

2014 eMedicine Pediatrics

82. Hyperammonemia (Diagnosis)

: the initial presentation. J Inherit Metab Dis . Nov 2015. 38:1041-1057. . Batshaw ML, Tuchman M, Summar M, et al. A longitudinal study of urea cycle disorders. Mol Genet Metab . Sept-Oct 2014. 113:127-130. . Summar ML, Mew NA. Inborn Errors of Metabolism with Hyperammonemia: Ure Cycle Defects and Related Disorders. Pediatr Clin NA . Apr 2018. 65:231-246. . Media Gallery Urea cycle. Compounds that comprise the urea cycle are numbered sequentially, beginning with carbamyl phosphate. At the first step (1 (...) with a BUN level of 6-20 mg/dL. The total soluble ammonia level in a healthy adult with 5 L of circulating blood is only 150 mcg, in contrast to approximately 1000 mg of urea nitrogen present. Because urea is the end product of ammonia metabolism, the disparity in blood quantities of the substrate and product illustrates the following 2 principles: The CNS is protected from the toxic effects of free ammonia. The metabolic conversion system that leads to production of urea is highly efficient

2014 eMedicine Pediatrics

83. Holocarboxylase Synthetase Deficiency (Diagnosis)

(1):115-8. . Eldjarn L, Jellum E, Stokke O, Pande H, Waaler PE. Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism. Lancet . 1970 Sep 5. 2(7671):521-2. . Gompertz D, Draffan GH, Watts JL, Hull D. Biotin-responsive beta-methylcrotonylglycinuria. Lancet . 1971 Jul 3. 2(7714):22-4. . Gompertz D, Goodey PA, Bartlett K. Evidence for the enzymic defect in beta-methylcrotonylglycinuria. FEBS Lett . 1973 May 15. 32(1):13-4. . Malvagia S, Morrone (...) severe ketoacidosis, exfoliative dermatitis, and hypoglycemia. [ ] The urine may have a distinctive tomcatlike odor; however, the odiferous constituent has not been characterized. Previous Next: Epidemiology Frequency United States The true incidence in the newborn population cannot be cited for lack of data based on population screening. Holocarboxylase synthetase deficiency is among the rarest of inborn errors, with an estimated incidence of less than 1 per 200,000 live births. Mortality/Morbidity

2014 eMedicine Pediatrics

84. Laron Syndrome (Diagnosis)

dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism?. Isr J Med Sci . 1966 Mar-Apr. 2(2):152-5. . Guevara-Aguirre J, Rosenbloom AL, Fielder PJ, Diamond FB Jr, Rosenfeld RG. Growth hormone receptor deficiency in Ecuador: clinical and biochemical phenotype in two populations. J Clin Endocrinol Metab . 1993 Feb. 76(2):417-23. . Guevara-Aguirre J, Balasubramanian P, Guevara-Aguirre M, et al. Growth hormone receptor deficiency is associated with a major reduction in pro (...) high with abnormal IGF-I Next: Pathophysiology The GH molecule binds to its specific cell surface receptor (GHR), which dimerizes with another GHR molecule so that the single GH molecule is enveloped by 2 GHR molecules. The intact receptor lacks tyrosine kinase activity, but binding of GH and dimerization results in association with JAK2, a member of the Janus kinase family, which results in self-phosphorylation of the JAK2 and a cascade of phosphorylation of cellular proteins. The most critical

2014 eMedicine Pediatrics

85. White Blood Cell Function (Follow-up)

myeloblast precursor. This change indicates a heavily anaerobic metabolism. Primary granules contain myeloperoxidase, arginine-rich (cationic) proteins, lysozymes with a bactericidal function, sulfated mucopolysaccharides, acid phosphatases, proteases, and hydrolases, among other contents. Microperoxisomes that contain catalase are also present at the promyelocytic stage of development. The myelocyte represents the next stage. This cell is smaller and rounder than its predecessor, with a smaller Golgi (...) apparatus and endoplasmic reticulum. Glycogen appears at this stage and serves as a glucose store that the hexose monophosphate shunt can directly oxidize. These changes indicate an increase in the amount of cellular anaerobic metabolism. Secondary granules appear at this stage of development. Contents of secondary granules include collagenase and lysozyme. The secondary granules do not contain peroxidase. The production of primary granules ceases during the myelocyte stage of development. Appearance

2014 eMedicine Pediatrics

86. White Blood Cell Function (Treatment)

myeloblast precursor. This change indicates a heavily anaerobic metabolism. Primary granules contain myeloperoxidase, arginine-rich (cationic) proteins, lysozymes with a bactericidal function, sulfated mucopolysaccharides, acid phosphatases, proteases, and hydrolases, among other contents. Microperoxisomes that contain catalase are also present at the promyelocytic stage of development. The myelocyte represents the next stage. This cell is smaller and rounder than its predecessor, with a smaller Golgi (...) apparatus and endoplasmic reticulum. Glycogen appears at this stage and serves as a glucose store that the hexose monophosphate shunt can directly oxidize. These changes indicate an increase in the amount of cellular anaerobic metabolism. Secondary granules appear at this stage of development. Contents of secondary granules include collagenase and lysozyme. The secondary granules do not contain peroxidase. The production of primary granules ceases during the myelocyte stage of development. Appearance

2014 eMedicine Pediatrics

87. Protein-Losing Enteropathy (Diagnosis)

T, Haberman Y, Pri-Chen H, Pode-Shakked B, Mazaheri S, et al. Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations. Eur J Hum Genet . 2016 Feb 17. . McMillan T. Neonatal diabetes and protein losing enteropathy: a case report. BMC Medical genetics . Jackson CC, Best L, Lorenzo L, Casanova JL, Wacker J, Bertz S, et al. A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression. J Clin (...) of the GI tract are also considered PLE. Hypoalbuminemia can result from protein loses through the skin, the kidneys, or the respiratory tract as well as decreased synthesis in the face of normal turnover. PLE is generally secondary to 1 of 3 mechanisms: Lymphatic obstruction Inflamed mucosa Molecular changes in the epithelial barrier in the absence of other signs of pathology Next: Background Although PLE implies an intestinal disease associated with the small bowel, the term "protein-losing

2014 eMedicine Pediatrics

88. Laron Syndrome (Overview)

dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism?. Isr J Med Sci . 1966 Mar-Apr. 2(2):152-5. . Guevara-Aguirre J, Rosenbloom AL, Fielder PJ, Diamond FB Jr, Rosenfeld RG. Growth hormone receptor deficiency in Ecuador: clinical and biochemical phenotype in two populations. J Clin Endocrinol Metab . 1993 Feb. 76(2):417-23. . Guevara-Aguirre J, Balasubramanian P, Guevara-Aguirre M, et al. Growth hormone receptor deficiency is associated with a major reduction in pro (...) high with abnormal IGF-I Next: Pathophysiology The GH molecule binds to its specific cell surface receptor (GHR), which dimerizes with another GHR molecule so that the single GH molecule is enveloped by 2 GHR molecules. The intact receptor lacks tyrosine kinase activity, but binding of GH and dimerization results in association with JAK2, a member of the Janus kinase family, which results in self-phosphorylation of the JAK2 and a cascade of phosphorylation of cellular proteins. The most critical

2014 eMedicine Pediatrics

89. Infections in the Immunocompromised Host (Overview)

, joint, peritoneal, wound, or ventricular access or drainage devices Internal foreign bodies [ ] Major surgery [ ] Treatment For leukemia or lymphoma Bone marrow or stem-cell transplantation Solid organ transplantation [ ] Therapy for autoimmune or inflammatory disorders TNF-alpha inhibitors [ ] Monoclonal antibodies and related small molecules Transfusion (which may lead to iron overload) Previous Next: Alternate Diagnoses Table. Differential Diagnoses Previous Next: Infections In general (...) , [ ] histoplasmosis, [ ] Listeria infection, [ ] and severe falciparum malaria. [ ] Other monoclonal antibodies and related small molecules have been associated with numerous infections. [ ] For example, therapy with eculizumab, a C5 inhibitor, is associated with invasive meningococcal infection. Similarly, treatment with natalizumab (for multiple sclerosis) is associated with progressive multifocal leukoencephalopathy. [ , ] Treatment with infliximab has been associated with disseminated cutaneous varicella

2014 eMedicine Pediatrics

90. Biotin Deficiency (Overview)

of intestinal malabsorption of biotin. Marginal biotin deficiency during pregnancy and lactation: Recent studies have shown decreased biotin levels in a significant proportion of pregnant and lactating women. There are concerns that marginal biotin deficiency during pregnancy might be teratogenic and some experts have recommended a higher intake of biotin by pregnant women. [ ] Certain inborn errors of biotin metabolism may also lead to the manifestation of biotin deficiency. (BTD) is inherited (...) the holocarboxylase enzyme has performed several carboxylations it is captured by cellular lysosomes. In the lysosomes, various proteolytic enzymes degrade the holocarboxylase to form biocytin, which, in turn, is hydrolyzed by the enzyme biotinidase to form biotin and lysine. Free biotin is then available for insertion into an apocarboxylase to form a new holocarboxylase molecule. This recycling process is not 100% efficient. As a result, small amounts of free biotin (and some biocytin) escape the cycle

2014 eMedicine Pediatrics

91. Arginase Deficiency (Overview)

arginase activity, whereas type II is inducible and found in extrahepatic tissues. The disease is caused by a deficiency of arginase type I in the liver. Next: Pathophysiology The hepatic urea cycle is the major route for waste nitrogen disposal, which is chiefly generated from protein and amino acid metabolism. Low-level synthesis of certain cycle intermediates in extrahepatic tissues also makes a small contribution to waste nitrogen disposal. A portion of the cycle takes place in mitochondria (...) . 2004 Nov. 24(11):857-60. . Picker JD, Puga AC, Levy HL, et al. Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J Pediatr . 2003 Mar. 142(3):349-52. . Qureshi IA, Letarte J, Ouellet R, Batshaw ML, et al. Treatment of hyperargininemia with sodium benzoate and arginine- restricted diet. J Pediatr . Mar 1984. 104(3):473-6. . Saudubray JM, Rabier D. Biomarkers identified in inborn errors for lysine, arginine, and ornithine. J Nutr . 2007 Jun

2014 eMedicine Pediatrics

92. Argininosuccinate Lyase Deficiency (Overview)

acid metabolism. Low-level synthesis of certain cycle intermediates in extrahepatic tissues makes a small contribution to waste nitrogen disposal. A portion of the cycle is mitochondrial in nature; mitochondrial dysfunction may impair urea production and may result in hyperammonemia. Overall, the cycle’s activity is regulated by the rate of synthesis of , the enzyme activator that initiates incorporation of ammonia into the cycle. The rate-limiting step is disposal of waste nitrogen. However (...) characterization. Mol Genet Metab . 2003 Jan. 78(1):11-6. . Saudubray JM, Rabier D. Biomarkers identified in inborn errors for lysine, arginine, and ornithine. J Nutr . 2007 Jun. 137(6 Suppl 2):1669S-1672S. . Stadler S, Gempel K, Bieger I, et al. Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry. J Inherit Metab Dis . 2001 Jun. 24(3):370-8. . Steiner RD, Cederbaum SD. Laboratory evaluation of urea cycle disorders. J Pediatr . 2001 Jan. 138(1 Suppl):S21-9. . Stephenne X

2014 eMedicine Pediatrics

93. Carbamoyl Phosphate Synthetase Deficiency (Overview)

nitrogen disposal. Waste nitrogen is chiefly generated from protein and amino acid metabolism. Low-level synthesis of certain cycle intermediates in extrahepatic tissues also makes a small contribution to waste nitrogen disposal. A portion of the cycle is mitochondrial in nature; mitochondrial dysfunction may impair urea production and may result in hyperammonemia. Overall, activity of the cycle is regulated by the rate of synthesis of N -acetylglutamate, the enzyme activator of CPS I, which initiates (...) incorporation of ammonia into the cycle. Previous Next: Epidemiology Frequency United States CPS deficiency is rare. As with all the urea cycle defects, as well as most of the inborn errors, citing incidence figures is impossible because new cases are generally diagnosed randomly without the benefit of population screening. International According a study of urea cycle diseases in Finland, 3 cases of CPS deficiency had been reported by 2007. [ ] A study in Italy provided an overview of clinical findings

2014 eMedicine Pediatrics

94. Menkes Kinky Hair Disease (Diagnosis)

in Australia, where wool production remained a major industry. [ , ] He measured serum copper in 7 patients with Menkes kinky hair disease and found low levels in all 7 individuals. Serum levels of ceruloplasmin, an important copper enzyme, were also subnormal. Thus, observations made 35 years apart concerning the effects of copper deficiency in Australian sheep became extremely relevant to a human inborn error of metabolism. This important biochemical finding sparked renewed interest in the phenotype (...) of Menkes Kinky Hair Disease Updated: Sep 08, 2015 Author: Stephen G Kaler, MD, MPH; Chief Editor: Maria Descartes, MD Share Email Print Feedback Close Sections Sections Genetics of Menkes Kinky Hair Disease Overview Background In the 52 years since the original description of Menkes kinky hair disease (MKHD), advances in understanding the clinical, biochemical, and molecular aspects of this rare disorder of copper metabolism have outstripped progress in the design of effective therapies. [ ] The most

2014 eMedicine Pediatrics

95. Carbamoyl Phosphate Synthetase Deficiency (Diagnosis)

nitrogen disposal. Waste nitrogen is chiefly generated from protein and amino acid metabolism. Low-level synthesis of certain cycle intermediates in extrahepatic tissues also makes a small contribution to waste nitrogen disposal. A portion of the cycle is mitochondrial in nature; mitochondrial dysfunction may impair urea production and may result in hyperammonemia. Overall, activity of the cycle is regulated by the rate of synthesis of N -acetylglutamate, the enzyme activator of CPS I, which initiates (...) incorporation of ammonia into the cycle. Previous Next: Epidemiology Frequency United States CPS deficiency is rare. As with all the urea cycle defects, as well as most of the inborn errors, citing incidence figures is impossible because new cases are generally diagnosed randomly without the benefit of population screening. International According a study of urea cycle diseases in Finland, 3 cases of CPS deficiency had been reported by 2007. [ ] A study in Italy provided an overview of clinical findings

2014 eMedicine Pediatrics

96. Congenital Hypothyroidism (Diagnosis)

to thyroglobulin, forming monoiodotyrosine (MIT) and diiodotyrosine (DIT). The coupling of 2 molecules of DIT forms tetraiodothyronine (ie, T4). The coupling of one molecule of MIT and one molecule of DIT forms T3. Thyroglobulin, with T4 and T3 attached, is stored in the follicular lumen. TSH activates the enzymes needed to cleave T4 and T3 from thyroglobulin. In most situations, T4 is the primary hormone produced by and released from the thyroid gland. Inborn errors of thyroid metabolism can result (...) Hypothyroidism Updated: Oct 14, 2017 Author: Maala S Daniel, MBBS; Chief Editor: Sasigarn A Bowden, MD Share Email Print Feedback Close Sections Sections Congenital Hypothyroidism Overview Practice Essentials Congenital hypothyroidism (CH) is inadequate thyroid hormone production in newborn infants. It can occur because of an anatomic defect in the gland, an inborn error of thyroid metabolism, or iodine deficiency. (See the image below.) CH is the most common neonatal endocrine disorder, and historically

2014 eMedicine Pediatrics

97. Hyperammonemia (Overview)

: the initial presentation. J Inherit Metab Dis . Nov 2015. 38:1041-1057. . Batshaw ML, Tuchman M, Summar M, et al. A longitudinal study of urea cycle disorders. Mol Genet Metab . Sept-Oct 2014. 113:127-130. . Summar ML, Mew NA. Inborn Errors of Metabolism with Hyperammonemia: Ure Cycle Defects and Related Disorders. Pediatr Clin NA . Apr 2018. 65:231-246. . Media Gallery Urea cycle. Compounds that comprise the urea cycle are numbered sequentially, beginning with carbamyl phosphate. At the first step (1 (...) with a BUN level of 6-20 mg/dL. The total soluble ammonia level in a healthy adult with 5 L of circulating blood is only 150 mcg, in contrast to approximately 1000 mg of urea nitrogen present. Because urea is the end product of ammonia metabolism, the disparity in blood quantities of the substrate and product illustrates the following 2 principles: The CNS is protected from the toxic effects of free ammonia. The metabolic conversion system that leads to production of urea is highly efficient

2014 eMedicine Pediatrics

98. Holocarboxylase Synthetase Deficiency (Overview)

(1):115-8. . Eldjarn L, Jellum E, Stokke O, Pande H, Waaler PE. Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism. Lancet . 1970 Sep 5. 2(7671):521-2. . Gompertz D, Draffan GH, Watts JL, Hull D. Biotin-responsive beta-methylcrotonylglycinuria. Lancet . 1971 Jul 3. 2(7714):22-4. . Gompertz D, Goodey PA, Bartlett K. Evidence for the enzymic defect in beta-methylcrotonylglycinuria. FEBS Lett . 1973 May 15. 32(1):13-4. . Malvagia S, Morrone (...) severe ketoacidosis, exfoliative dermatitis, and hypoglycemia. [ ] The urine may have a distinctive tomcatlike odor; however, the odiferous constituent has not been characterized. Previous Next: Epidemiology Frequency United States The true incidence in the newborn population cannot be cited for lack of data based on population screening. Holocarboxylase synthetase deficiency is among the rarest of inborn errors, with an estimated incidence of less than 1 per 200,000 live births. Mortality/Morbidity

2014 eMedicine Pediatrics

99. Anemia, Megaloblastic (Overview)

and certain rare inborn errors such as thiamine-responsive megaloblastic anemia, [ , ] Lesch-Nyhan syndrome, and hereditary orotic aciduria (see Etiology). Treatment of megaloblastic anemia depends on the underlying cause. Supplemental folate or vitamin B-12 may be indicated (see Treatment). Go to , , , , and for complete information on these topics. Vitamin B-12 deficiency Vitamin B-12 is commonly ingested with meat or fish. It binds to salivary haptocorrins, which are digested in the stomach, allowing (...) allow neurologic damage to progress. Folate deficiency Folate is ingested in the diet in many different types of food. It enters the enterocyte and is transported into the portal circulation by a carrier molecule. It circulates in the plasma mostly as 5-methyl tetrahydrofolate (THF). It enters the cell via a carrier (methotrexate competes with this carrier). In the cell, folate binds to and acts as a coenzyme with enzymes responsible for single carbon metabolism. Folate deficiency can be caused

2014 eMedicine Pediatrics

100. Hematopoietic Stem Cell Transplantation (Treatment)

Aplastic anemia Pure red-cell aplasia Paroxysmal nocturnal hemoglobinuria Fanconi anemia Thalassemia major Sickle cell anemia Severe combined immunodeficiency (SCID) Wiskott-Aldrich syndrome Hemophagocytic lymphohistiocytosis Inborn errors of metabolism Epidermolysis bullosa Severe congenital neutropenia Shwachman-Diamond syndrome Diamond-Blackfan anemia Leukocyte adhesion deficiency HSCT-related morbidity and mortality Complications associated with HSCT include both early and late effects. Early-onset (...) leukemia Chronic lymphocytic leukemia Myeloproliferative disorders Myelodysplastic syndromes Non-Hodgkin lymphoma Hodgkin lymphoma Pure red cell aplasia Paroxysmal nocturnal hemoglobinuria major (SCID) Wiskott-Aldrich syndrome Hemophagocytic lymphohistiocytosis (HLH) Inborn errors of metabolism - Eg, mucopolysaccharidosis, Gaucher disease, metachromatic leukodystrophies, and adrenoleukodystrophies Epidermolysis bullosa Severe congenital neutropenia Shwachman-Diamond syndrome Diamond-Blackfan anemia

2014 eMedicine Pediatrics

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