A Simple Chromatographic Screening Test for the Detection of Disorders of Amino Acid Metabolism

Efron, Mary L.; Young, Dean M.; Moser, Hugo W.; MacCready, Robert A.

doi:10.1056/nejm196406252702602

Cited by 171 publications

(38 citation statements)

References 34 publications

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“…They were considered to be large for the gestational age when the birth weight was above the 90 th percentile, and small for the gestational age when the weight was below the 10 th percentile. The newborns included in the study were submitted to the tests routinely utilized in the Laboratory for Inborn Errors of Metabolism at the Center for Medical Genetics, based on qualitative research for abnormal substances excreted in the urine in situations of metabolic disorder, as described by Buist,17 Giogio & Luhby 18 and Thomas, 19 and aminoacid urine chromatography 20 . The results from the tests were analyzed in parallel with the clinical information available, and in accordance with the demographic data for the newborns obtained from consulting their medical records from the internment in the Neonatal Unit.…”

Section: Methodsmentioning

confidence: 99%

Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause

et al. 2001

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CONTEXT: Inborn Errors of Metabolism are hereditary affections resulting from incompetence in enzymatic reactions of intermediary metabolism. At present, several hundred hereditary metabolic disturbances are known, many of which correspond to severe life-threatening disorders. OBJECTIVE: The early detection of carriers has motivated the screening for these disturbances among newborns at the Neonatal Unit of Hospital São Paulo, in an attempt to initiate support treatment, when available, before clinical manifestations become evident. DESIGN: Prospective study of risk patients. SETTING: Laboratory for Inborn Errors of Metabolism at the Center for Medical Genetics of the Departments of Pediatrics and Morphology of Universidade Federal de São Paulo/Escola Paulista de Medicina.Newborn care unit at a tertiary care hospital. PARTICIPANTS: 101 children admitted into the Neonatal Unit were included in this study by presenting hypoglycemia, metabolic acidosis, jaundice, difficulty in gaining weight, diarrhea, vomiting, hepato- and/or splenomegaly, cataracts, apnea, convulsions, hypo- or hypertonia. DIAGNOSTIC TESTS: Tests routinely utilized, performed for qualitative research of abnormal substances excreted in the urine in situations of metabolic disorder. RESULTS: Children were included in the study mainly because of presenting hypoglycemia, jaundice and metabolic acidosis. Sixty-four newborns presented at least one positive test result. Most of the positivity was due to transitory metabolic alterations of the newborn, such as the case of Transitory Neonatal Tyrosinemia, presented by 29 patients. Nine infants were referred to the Center for Medical Genetics of Universidade Federal de São Paulo for continuation of the diagnostic investigation. For three of them, the tests applied permitted us to formulate a diagnostic hypothesis of mucopolysaccharidosis, tyrosinemia type I and non-ketotic hyperglycinemia, respectively. CONCLUSIONS: The high positivity observed in the tests reflects the newborn's own metabolic immaturity. The selection of 9% of the studied cases for outpatient follow-up confirms that Inborn Errors of Metabolism must be suspected whenever a patient presents metabolic disturbances or neurological manifestations without a determined cause. They should be researched in parallel with the other diagnostic possibilities and not just taken to be exceptional diagnoses.

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Section: Methodsmentioning

confidence: 99%

Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause

et al. 2001

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“…Electrophoresis of protein in serum was carried out by the Spinco method using a Durrum cell. Two-dimensional amino acid chromatography was performed according to a modified [5] method of DENT [15], and one-dimensional chromatography was performed by the method of EFRON [20]. Renal clearances of inulin and paraaminohippurate (PAH) were determined using a constant infusion technique to maintain the level of inulin in serum at 20 mg/100 ml, and of PAH at 1-3 mg/ 100 ml.…”

Section: Case Materialsmentioning

confidence: 99%

Hereditary Nephritis: Early Clinical, Functional, and Morphological Studies

et al. 1969

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ExtractThe accumulation of literature on hereditary nephritis with or without nerve deafness attests to the increased awareness of the existence of this syndrome. I t is the purpose of this report to show that there are distinguishing histologic findings in young patients with minimal disease and normal renal function. Eleven patients were studied; 4 were females and 7 were males. Relevant family histories and clinical laboratory findings are shown in table I. I n all patients, hematuria, gross or microscopic, was present. Exacerbations of the hematuria occurred as a part of the exaggerated response of these patients to upper respiratory infection. Renal functional data are shown in table 11. These data were generally within normal limits for our laboratory. Table I11 outlines the morphologic findings observed on renal biopsy. In renal biopsies obtained from 10 patients, there was observed persistence of fetal-like glomeruli characterized by the circumferential crowding of visceral epithelium and an apparent decrease in the number of patent capillaries. The most striking finding in the tubules was the presence of red cells and red blood cell casts seen mainly in the distal and collecting tubules. Foam cells were an infrequent finding but, when present, were unassociated with interstitial fibrosis. Examination of kidney specimens under the electron microscope revealed the presence of at least three glomeruli in seven patients and of fetal-like glomeruli in all patients. There was also circumferential crowding of visceral epithelial cells, particularly at the surface, facing Bowman's capsule. These epithelial cells were characterized by large nuclei, small amounts of cytoplasm, apparently poorly developed intracytoplasmic organelles, and frequent villous-like cytoplasmic projections on the surface. I n families from whom past histories are unavailable, recognition of distinct renal biopsy characteristics would help identify this syndrome in the early stages of disease. At this stage, the combination of morphologic features considered to be characteristic would include the presence of a) fetal-like glomeruli, which were seen by electron microscopy in 7 patients and by light microscopy in 10 patients; b) mild to moderate hypercellularity ; c) large numbers of tubules filled with red blood cells and red blood cell casts; and d) foam cells in the absence of interstitial fibrosis. The fetal-like glomeruli present in our patients did not correspond to any of the normal stages of glomerular development observed under electron microscopy by other investigators, but rather, appeared to represent dysgenesis. Most patients from whom data are reported were more than 2 years of age, at which time fetal glomeruli are exceptional. Of interest was the observation that almost identical histology was found to exist among the siblings. ANTONOVYCH, DEASY, TINA, D'ALBORA, HOLLERMAN a n d CALCAGNO SpeculationT h e fetal-like glomeruli observed o n renal biopsy might b e the result of either a developmental abnormality or dysgenesis. T ...

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“…paper chromatography [13,28], thin-layer chromato graphy [7], high-voltage paper electrophoresis [17,26], thin-layer highvoltage electrophoresis [27,36], and bacterial inhibition tests [6]. Besides primary overflow aminoaciduria, renal transport aminoacidurias have been described, e.g.…”

mentioning

confidence: 99%

Effect of Low, Normal and High Dietary Protein Intake on Urinary Amino Acid Excretion and Plasma Aminogram in Children

Holmgren¹

1974

Ann Nutr Metab

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The influence of dietary protein intake on the urinary amino acid excretion, the plasma amino acid concentrations and the renal clearance of amino acids was studied in 14 children fed a low (LPD), a normal (NPD), and a high protein diet (HPD). A significant decrease in the quantitative urinary excretion of most amino acids was observed when the children were fed LPD instead of NPD, while no changes in the quantitative urinary amino acid excretion were seen when NPD and HPD were compared. No significant decrease in the plasma amino acid concentrations was seen when the protein intake was changed from NPD to LPD, while a significant increase in several amino acids was seen when HPD replaced NPD. The renal clearance of amino acids when on LPD, NPD and HPD, were compared in 11 children. On LPD, the renal clearances of many amino acids were low when compared with NPD but there were no changes in the renal clearances when HPD was given instead of NPD. The quantitative urinary amino acid excretions and plasma amino acid concentrations at a normal protein intake are presented as well.

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A Simple Chromatographic Screening Test for the Detection of Disorders of Amino Acid Metabolism

Cited by 171 publications

References 34 publications

Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause

Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause

Hereditary Nephritis: Early Clinical, Functional, and Morphological Studies

Effect of Low, Normal and High Dietary Protein Intake on Urinary Amino Acid Excretion and Plasma Aminogram in Children

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