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Inborn Error of Small Molecule Metabolism

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61. Cystinuria (Diagnosis)

and medical prevention of recurrent stone formation. For patient education information, see . Next: Background In 1810, Wollaston first described a different type of urinary calculi from the urinary bladder and coined the term cystic oxide. [ ] Berzelius recognized that the compound was not an oxide, and he named it cystine because the material originated from the bladder. [ ] In 1908, Sir Archibald Garrod identified cystinuria as one of the original "inborn errors of metabolism." [ ] Yeh et al (...) . 1810. 100:223-30. Berzellius J. Calculus urinaires. Traite Chem . 1833. 7:424. Garrod AE. Inborn errors of metabolism. Lancet . 1908. 2:1, 73, 142, 214. Yeh HL, Frankl W, Dunn MS. The urinary excretion of amino acids by cystinuric subjects. Am J Med Sci . 1974. 214:507-12. Dent CC, Rose GA. Amino acid metabolism in cystinuria. Q J Med New Series . 1974. 214:507-12. Harris H, Mittwoch U, Robson EB, Warren FL. Phenotypes and genotypes in cystinuria. Ann Hum Genet . 1955 Aug. 20(1):57-91. . Milne MD

2014 eMedicine.com

62. Absence Seizures (Follow-up)

and neurologic findings may be abnormal, reflecting the underlying disorder. Physical examination may reveal stigmata of a genetic disease, such as a neurocutaneous disorder (eg, tuberous sclerosis) or an inborn error of metabolism. Neurologic examination may show signs of developmental delay or more specific signs, such as spastic paresis in cerebral palsy. Table 1. Clinical and EEG Findings in Typical and Atypical Absence Seizures* Type of Clinical Seizure EEG Findings Typical absence Impairment (...) on duration of the seizure; the longer the seizure, the more likely automatisms are to occur (see image below). [ ] Percentage of absence seizures with automatisms as a function of duration in seconds. (Data gathered from Penry et al, 1975.) Previous Next: Laboratory Studies When evaluating a child for staring spells, laboratory tests for metabolic abnormalities or toxic or drug ingestion (especially in older children) may be indicated. If a clear history of the episodic nature of the attacks is obtained

2014 eMedicine.com

63. Low LDL Cholesterol (Hypobetalipoproteinemia) (Diagnosis)

. [ ] Secondary causes The secondary causes of hypobetalipoproteinemia include occult malignancy, as well as conditions such as malnutrition, liver disease, and chronic alcoholism. These conditions must be excluded before the diagnosis of FHBL can be made. Previous Next: Epidemiology Frequency United States Abetalipoproteinemia (ABL) and familial hypobetalipoproteinemia (FHBL) are rare inborn errors of lipoprotein metabolism. ABL occurs in less than 1 in 1 million persons. FHBL occurs in approximately 1 (...) gene prevents translation of a full-length apoB-100 molecule, leading to the formation of truncated apoB molecules (apoB-37, with 1728 amino acids; apoB-46, with 2057 amino acids; or apoB-31, with 1425 amino acids). [ , , , , ] Metabolic turnover studies indicate that in some persons, these APOB gene mutations result in impaired synthesis of apoB-containing lipoproteins, and that in other patients, they cause increased catabolism of these proteins. Overall, beta-lipoprotein levels remain low

2014 eMedicine.com

64. Prenatal Diagnosis for Congenital Malformations and Genetic Disorders (Treatment)

biopsies, including liver and muscle biopsy Case reports have described fetal liver biopsy to diagnose an inborn error of metabolism, such as ornithine transcarbamylase deficiency, [ ] glucose-6-phosphatase deficiency, [ ] glycogen storage disease type IA, nonketotic hyperglycemia, [ ] and carbamoyl-phosphate synthetase deficiency. [ ] Fetal muscle biopsy has also been described to analyze the muscle fibers histochemically for prenatal diagnosis of Becker-Duchenne muscular dystrophy (...) (10):763-8. . Mathis J, Raio L, Baud D. Fetal laser therapy: applications in the management of fetal pathologies. Prenat Diagn . 2015 Jul. 35 (7):623-36. . Galjaard H. Fetal diagnosis of inborn errors of metabolism. Baillieres Clin Obstet Gynaecol . 1987 Sep. 1(3):547-67. . Burton BK, Schulz CJ, Burd LI. Limb anomalies associated with chorionic villus sampling. Obstet Gynecol . 1992 May. 79(5 (Pt 1)):726-30. . Wang BB, Rubin CH, Williams J 3rd. Mosaicism in chorionic villus sampling: an analysis

2014 eMedicine.com

65. Absence Seizures (Treatment)

and neurologic findings may be abnormal, reflecting the underlying disorder. Physical examination may reveal stigmata of a genetic disease, such as a neurocutaneous disorder (eg, tuberous sclerosis) or an inborn error of metabolism. Neurologic examination may show signs of developmental delay or more specific signs, such as spastic paresis in cerebral palsy. Table 1. Clinical and EEG Findings in Typical and Atypical Absence Seizures* Type of Clinical Seizure EEG Findings Typical absence Impairment (...) on duration of the seizure; the longer the seizure, the more likely automatisms are to occur (see image below). [ ] Percentage of absence seizures with automatisms as a function of duration in seconds. (Data gathered from Penry et al, 1975.) Previous Next: Laboratory Studies When evaluating a child for staring spells, laboratory tests for metabolic abnormalities or toxic or drug ingestion (especially in older children) may be indicated. If a clear history of the episodic nature of the attacks is obtained

2014 eMedicine.com

66. Pyruvate Carboxylase Deficiency (Treatment)

the following: Lactic acidosis Metabolic acidosis Fatty acid beta-oxidation deficiencies Leigh encephalopathy Pyruvate dehydrogenase complex deficiency Phosphoenolpyruvate carboxykinase deficiency 2-Ketoglutarate dehydrogenase deficiency Dihydrolipoamide dehydrogenase deficiency Fumarase deficiency Previous Next: Lab Studies and Histologic Findings Lactate and pyruvate levels High blood lactate and pyruvate levels with or without lactic aciduria suggests an inborn error of energy metabolism. An increased (...) ) scans. Most patients with the type A pyruvate carboxylase deficiency live into adulthood but have global neurologic and cognitive dysfunction. Previous Next: Patient History Patient history in pyruvate carboxylase (PC) deficiency is characterized as follows: Birth - Low and an infant small for dates are nonspecific signs of a metabolic disturbance during gestation General - Development of poor feeding, vomiting, and lethargy are nonspecific, but common, symptoms of metabolic illnesses; symptoms can

2014 eMedicine.com

67. Pyruvate Carboxylase Deficiency (Overview)

the following: Lactic acidosis Metabolic acidosis Fatty acid beta-oxidation deficiencies Leigh encephalopathy Pyruvate dehydrogenase complex deficiency Phosphoenolpyruvate carboxykinase deficiency 2-Ketoglutarate dehydrogenase deficiency Dihydrolipoamide dehydrogenase deficiency Fumarase deficiency Previous Next: Lab Studies and Histologic Findings Lactate and pyruvate levels High blood lactate and pyruvate levels with or without lactic aciduria suggests an inborn error of energy metabolism. An increased (...) ) scans. Most patients with the type A pyruvate carboxylase deficiency live into adulthood but have global neurologic and cognitive dysfunction. Previous Next: Patient History Patient history in pyruvate carboxylase (PC) deficiency is characterized as follows: Birth - Low and an infant small for dates are nonspecific signs of a metabolic disturbance during gestation General - Development of poor feeding, vomiting, and lethargy are nonspecific, but common, symptoms of metabolic illnesses; symptoms can

2014 eMedicine.com

68. Prenatal Diagnosis for Congenital Malformations and Genetic Disorders (Overview)

biopsies, including liver and muscle biopsy Case reports have described fetal liver biopsy to diagnose an inborn error of metabolism, such as ornithine transcarbamylase deficiency, [ ] glucose-6-phosphatase deficiency, [ ] glycogen storage disease type IA, nonketotic hyperglycemia, [ ] and carbamoyl-phosphate synthetase deficiency. [ ] Fetal muscle biopsy has also been described to analyze the muscle fibers histochemically for prenatal diagnosis of Becker-Duchenne muscular dystrophy (...) (10):763-8. . Mathis J, Raio L, Baud D. Fetal laser therapy: applications in the management of fetal pathologies. Prenat Diagn . 2015 Jul. 35 (7):623-36. . Galjaard H. Fetal diagnosis of inborn errors of metabolism. Baillieres Clin Obstet Gynaecol . 1987 Sep. 1(3):547-67. . Burton BK, Schulz CJ, Burd LI. Limb anomalies associated with chorionic villus sampling. Obstet Gynecol . 1992 May. 79(5 (Pt 1)):726-30. . Wang BB, Rubin CH, Williams J 3rd. Mosaicism in chorionic villus sampling: an analysis

2014 eMedicine.com

69. Absence Seizures (Overview)

and neurologic findings may be abnormal, reflecting the underlying disorder. Physical examination may reveal stigmata of a genetic disease, such as a neurocutaneous disorder (eg, tuberous sclerosis) or an inborn error of metabolism. Neurologic examination may show signs of developmental delay or more specific signs, such as spastic paresis in cerebral palsy. Table 1. Clinical and EEG Findings in Typical and Atypical Absence Seizures* Type of Clinical Seizure EEG Findings Typical absence Impairment (...) on duration of the seizure; the longer the seizure, the more likely automatisms are to occur (see image below). [ ] Percentage of absence seizures with automatisms as a function of duration in seconds. (Data gathered from Penry et al, 1975.) Previous Next: Laboratory Studies When evaluating a child for staring spells, laboratory tests for metabolic abnormalities or toxic or drug ingestion (especially in older children) may be indicated. If a clear history of the episodic nature of the attacks is obtained

2014 eMedicine.com

70. Low LDL Cholesterol (Hypobetalipoproteinemia) (Overview)

. [ ] Secondary causes The secondary causes of hypobetalipoproteinemia include occult malignancy, as well as conditions such as malnutrition, liver disease, and chronic alcoholism. These conditions must be excluded before the diagnosis of FHBL can be made. Previous Next: Epidemiology Frequency United States Abetalipoproteinemia (ABL) and familial hypobetalipoproteinemia (FHBL) are rare inborn errors of lipoprotein metabolism. ABL occurs in less than 1 in 1 million persons. FHBL occurs in approximately 1 (...) gene prevents translation of a full-length apoB-100 molecule, leading to the formation of truncated apoB molecules (apoB-37, with 1728 amino acids; apoB-46, with 2057 amino acids; or apoB-31, with 1425 amino acids). [ , , , , ] Metabolic turnover studies indicate that in some persons, these APOB gene mutations result in impaired synthesis of apoB-containing lipoproteins, and that in other patients, they cause increased catabolism of these proteins. Overall, beta-lipoprotein levels remain low

2014 eMedicine.com

71. Hyperkalemia (Overview)

and therapeutic implications. Heart . 2003 Apr. 89(4):e14. . . New MI. Inborn errors of adrenal steroidogenesis. Mol Cell Endocrinol . 2003. 211:75-83. . White PC. Aldosterone synthase deficiency and related disorders. Mol Cell Endocrinol . 2004. 217:81-87. . Sartorato P, Khaldi Y, Lapeyraque AL, et al. Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism. Mol Cell Endocrinol . 2004 Mar 31. 217(1-2):119-25. . Geller DS, Rodriguez-Soriano J, Vallo Boado A, Schifter S (...) Urine potassium, sodium, and osmolality Complete blood count (CBC) Metabolic profile If the BUN and serum creatinine levels suggest renal insufficiency, using the MDRD or CKD-EPI equation to determine the estimated glomerular filtration rate (eGFR) is recommended. [ ] Chronic kidney disease alone generally will not cause hyperkalemia until the eGFR is less than 20-25 mL/min. Depending on the clinical findings and the results of the above laboratory work, the following may be indicated: Glucose level

2014 eMedicine.com

72. Hematopoietic Stem Cell Transplantation (Overview)

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.com

73. Lactic Acidosis (Overview)

is secondary to inborn errors of metabolism, such as defects in gluconeogenesis, pyruvate dehydrogenase, the tricarboxylic acid (TCA) cycle, or the respiratory chain. These disorders generally reflect situations in which the disposal of pyruvate by biosynthetic or oxidative routes is impaired. Lactic acidosis may not necessarily produce acidemia in a patient. The development of lactic acidosis depends on the magnitude of hyperlactatemia, the buffering capacity of the body, and the coexistence of other (...) in association with systemic disease, such as renal and hepatic failure, diabetes and malignancy. [ ] Type B2 is caused by several classes of drugs and toxins, including biguanides, alcohols, iron, isoniazid, zidovudine, and salicylates. [ ] Type B3 is due to inborn errors of metabolism. Within these categories, septic shock may move from type A to type B, as the initial presentation is often associated with hypoperfusion, and with aggressive fluid resuscitation little evidence of tissue hypoperfusion exists

2014 eMedicine.com

74. Cystinuria (Overview)

and medical prevention of recurrent stone formation. For patient education information, see . Next: Background In 1810, Wollaston first described a different type of urinary calculi from the urinary bladder and coined the term cystic oxide. [ ] Berzelius recognized that the compound was not an oxide, and he named it cystine because the material originated from the bladder. [ ] In 1908, Sir Archibald Garrod identified cystinuria as one of the original "inborn errors of metabolism." [ ] Yeh et al (...) . 1810. 100:223-30. Berzellius J. Calculus urinaires. Traite Chem . 1833. 7:424. Garrod AE. Inborn errors of metabolism. Lancet . 1908. 2:1, 73, 142, 214. Yeh HL, Frankl W, Dunn MS. The urinary excretion of amino acids by cystinuric subjects. Am J Med Sci . 1974. 214:507-12. Dent CC, Rose GA. Amino acid metabolism in cystinuria. Q J Med New Series . 1974. 214:507-12. Harris H, Mittwoch U, Robson EB, Warren FL. Phenotypes and genotypes in cystinuria. Ann Hum Genet . 1955 Aug. 20(1):57-91. . Milne MD

2014 eMedicine.com

75. Cystinuria (Treatment)

. Traite Chem . 1833. 7:424. Garrod AE. Inborn errors of metabolism. Lancet . 1908. 2:1, 73, 142, 214. Yeh HL, Frankl W, Dunn MS. The urinary excretion of amino acids by cystinuric subjects. Am J Med Sci . 1974. 214:507-12. Dent CC, Rose GA. Amino acid metabolism in cystinuria. Q J Med New Series . 1974. 214:507-12. Harris H, Mittwoch U, Robson EB, Warren FL. Phenotypes and genotypes in cystinuria. Ann Hum Genet . 1955 Aug. 20(1):57-91. . Milne MD, Asatoor AM, Edwards KD, Loughridge LW. The intestinal (...) in the kidneys or ureters, with rare exceptions. Large bladder calculi may be amenable to open surgery, but these stones can also be treated with laser or electrohydraulic lithotripsy. Ureteral substitution with small intestine has been reported in highly select cases. [ ] Previous Next: Diet Cystine is formed during the metabolism of methionine; therefore, a diet low in methionine is effective. To be effective, dietary methionine must be reduced to 1 g/d. Unfortunately, a primarily vegetarian diet

2014 eMedicine.com

76. 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.com

77. Prenatal Diagnosis for Congenital Malformations and Genetic Disorders (Follow-up)

biopsies, including liver and muscle biopsy Case reports have described fetal liver biopsy to diagnose an inborn error of metabolism, such as ornithine transcarbamylase deficiency, [ ] glucose-6-phosphatase deficiency, [ ] glycogen storage disease type IA, nonketotic hyperglycemia, [ ] and carbamoyl-phosphate synthetase deficiency. [ ] Fetal muscle biopsy has also been described to analyze the muscle fibers histochemically for prenatal diagnosis of Becker-Duchenne muscular dystrophy (...) (10):763-8. . Mathis J, Raio L, Baud D. Fetal laser therapy: applications in the management of fetal pathologies. Prenat Diagn . 2015 Jul. 35 (7):623-36. . Galjaard H. Fetal diagnosis of inborn errors of metabolism. Baillieres Clin Obstet Gynaecol . 1987 Sep. 1(3):547-67. . Burton BK, Schulz CJ, Burd LI. Limb anomalies associated with chorionic villus sampling. Obstet Gynecol . 1992 May. 79(5 (Pt 1)):726-30. . Wang BB, Rubin CH, Williams J 3rd. Mosaicism in chorionic villus sampling: an analysis

2014 eMedicine.com

78. Pyruvate Carboxylase Deficiency (Follow-up)

the following: Lactic acidosis Metabolic acidosis Fatty acid beta-oxidation deficiencies Leigh encephalopathy Pyruvate dehydrogenase complex deficiency Phosphoenolpyruvate carboxykinase deficiency 2-Ketoglutarate dehydrogenase deficiency Dihydrolipoamide dehydrogenase deficiency Fumarase deficiency Previous Next: Lab Studies and Histologic Findings Lactate and pyruvate levels High blood lactate and pyruvate levels with or without lactic aciduria suggests an inborn error of energy metabolism. An increased (...) ) scans. Most patients with the type A pyruvate carboxylase deficiency live into adulthood but have global neurologic and cognitive dysfunction. Previous Next: Patient History Patient history in pyruvate carboxylase (PC) deficiency is characterized as follows: Birth - Low and an infant small for dates are nonspecific signs of a metabolic disturbance during gestation General - Development of poor feeding, vomiting, and lethargy are nonspecific, but common, symptoms of metabolic illnesses; symptoms can

2014 eMedicine.com

79. Cystinuria (Follow-up)

. Traite Chem . 1833. 7:424. Garrod AE. Inborn errors of metabolism. Lancet . 1908. 2:1, 73, 142, 214. Yeh HL, Frankl W, Dunn MS. The urinary excretion of amino acids by cystinuric subjects. Am J Med Sci . 1974. 214:507-12. Dent CC, Rose GA. Amino acid metabolism in cystinuria. Q J Med New Series . 1974. 214:507-12. Harris H, Mittwoch U, Robson EB, Warren FL. Phenotypes and genotypes in cystinuria. Ann Hum Genet . 1955 Aug. 20(1):57-91. . Milne MD, Asatoor AM, Edwards KD, Loughridge LW. The intestinal (...) in the kidneys or ureters, with rare exceptions. Large bladder calculi may be amenable to open surgery, but these stones can also be treated with laser or electrohydraulic lithotripsy. Ureteral substitution with small intestine has been reported in highly select cases. [ ] Previous Next: Diet Cystine is formed during the metabolism of methionine; therefore, a diet low in methionine is effective. To be effective, dietary methionine must be reduced to 1 g/d. Unfortunately, a primarily vegetarian diet

2014 eMedicine.com

80. Hematopoietic Stem Cell Transplantation (Follow-up)

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.com

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