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Assessment of the Infant with Acute Metabolic Problems

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Assessment of the Infant with Acute Metabolic Problems ANNALS OF CLINICAL AND LABORATORY SCIENCE, Vol. 21, No. 1 Copyright © 1991, Institute for Clinical Science, Inc. Assessment of the Infant with Acute Metabolic Problems HOBART E. WILTSE, M.D., Ph .D. Department o f Pediatrics, University of Nebraska College of Medicine Omaha, NB 68198-2165 ABSTRACT Those inborn errors of metabolism which characteristically produce acute illness during the first year of life often resemble infectious illnesses in their nonspecific modes of presentation. Grouping of signs and symp­ toms into prototypes, followed by an active search for clinical and labora­ tory clues with higher specificity, often proves helpful in making an appro­ priate choice of confirmatory diagnostic tests. Introduction within this group than on general famil­ iarity with important prototypes, such as The diagnosis of inborn errors of galactosemia, maple syrup urine disease, metabolism causing acute disease during hyperammonemia, the organic acide­ the neonatal period or later infancy can mias, and the beta oxidation defects. be a daunting task. Experience has pro­ Diagnostic strategies can appropriately vided clinicians with the symptom recog­ be organized around these prototypes. nition skills generally needed for initiat­ The reader seeking more detailed ing a metabolic investigation, and recent information about the clinical presenta­ laboratory innovations have brought us tion of these diseases than found here is improved tools for confirmatory diag­ referred to the landmark reviews by nosis. Differential diagnosis, the inter­ Burton8 and by Greene and coworkers.19 mediate step between diagnostic suspi­ cion and confirmation, usually The Initial Clues to Metabolic Illness constitutes the difficult step because of complexity and rarity of the diseases and The symptoms and signs which first poor specificity of their early manifesta­ call attention to the possibility of an tions. This review has as its purpose inherited metabolic disease in an acutely helping the clinician, or clinician-in- ill infant are likely to be nonspecific and training, to achieve maximum success in perhaps more suggestive of infection the identification of those metabolic dis­ than disordered metabolism. A search eases of infancy which are life-threaten­ should be undertaken for more specific ing and potentially treatable, and espe­ chemical clues at the same time as the cially those which are relatively common bacteriologic studies, since valuable time in occurrence. Most clinicians rely less can be lost if consideration of metabolic on extensive knowledge of diseases disease is delayed until the infant is 40 0091-7370/91/0100-0040 $02.00 © Institute for Clinical Science, Inc. ASSESSMENT OF THE INFANT WITH ACUTE METABOLIC PROBLEMS 41 found not to have septicemia. Vomiting, TABLE II interruption of feedings, and the com­ Initial Screening Tests from the monly used infusions of 10 percent glu­ Clinical Laboratory cose can normalize an elevated blood ammonia in an infant with a urea cycle Blood: defect, or cause galactose to disappear Glucose Urea nitrogen pH, electrolytes Uric acid from the urine in a neonate with galacto­ Ammonia Lactic acid semia, or glutaric acid to disappear from Liver enzymes * the urine of an infant with glutaric acide­ Complete blood count with differential mia type I. A blood transfusion given to a jaundiced infant might interfere with the Urine, Qualitative Tests for: Acetone Glucose diagnosis of galactosemia by enzyme Reducing sugar Methylmalonic acid assay on the erythrocytes, unless the Ketoacids (2,4-dinitrophenylhydrazine) neonatal metabolic screening panel has Sulfur-containing amino acids been carried out prior to transfusion. (cyanide - nltroprusside) In table I are listed examples of the Tyrosine derivatives (nltrosonaphthol) important but non-specific clues which * Alanine aminotransferase (ALT) can alert one to the presence of acute Asparate transamlnase(AST)) metabolic disease. Such clues offer little Lactate dehydrogenase (LD) help in indicating directions for the meta­ bolic studies, and the physician is therefore advised to explore actively for response to the aggravated fasting and additional clues having greater specifici­ acute catabolism which accompany ty. These might be found in the clinical an intercurrent illness with vomiting presentation itself or in the results of and fever. preliminary screening tests readily availa­ ble in the clinical laboratory (table II). Based on abnormalities which might Beyond Screening—Selection of More be found in the preliminary screening, Specialized Laboratory Tests table III offers suggestions for differen­ tial diagnosis. The age group organiza­ Prototype diseases are listed in table tion of this table is based upon a consid­ IV and the confirmatory tests listed in eration that acute metabolic symptoms table V. A physician dealing with one of in the neonate tend to be provoked by the diagnostic problems in table I might intolerance to protein or carbohydrate in use table II for preliminary screening. If the feedings, whereas the older infant this leads to a close fit with one or more more typically develops symptoms in of the diagnostic clues in table III, table IV can be used for developing diagnostic hypotheses and table V for selecting TABLE I appropriate laboratory tests. Several of Valuable But Nonspecific Clues the procedures listed in table V (e.g., to Metabolic Disease quantitative amino acid analysis, organic acid screen, and acyl carnitine profile) Poor feeding Vomiting are notably efficient screening tools in Jaundice Hepatomegaly their own right, offering considerable Hypoglycemia Hypotonia Seizures Apnea potential for yielding information of Failure to thrive diagnostic value, even if the original Family history of neonatal or Infantile death suspicion which prompted the test is not supported. TABLE III Diagnostic Clues with Greater Specificity for Neonate and Older Infant In the Neonate Possible Significance Hyperventilation Acidosis, hyperammonemia Hyperammonemia Urea cycle defect, transient hyperammonemia of the newborn, organic acidemia with 2° elevation in NH3, pyruvate carboxylase deficiency, holocarboxylase synthetase deficiency Metabolic acidosis with increased anion gap Propionic acidemia, methylmalonic acidemia, isovaleric acidemia, 1° or 2° lactic acidosis Lactic acidosis Pyruvate dehydrogenase deficiency, pyruvate carboxylase deficiency, biotinidase deficiency, holocarboxylase synthetase deficiency, propionic acidemia, methylmalonic acidemia, glycogen storage disease, fructose-1,6-bisphosphatase deficiency, 3-hydroxy- 3-fnethylglutaryl CoA lyase deficiency, glutaric acidemia II, respiratory chain defects WILTSE (important non-genetic alternatives: hypoxia, liver necrosis) Ketosis Propionic acidemia, methylmalonic acidemia, isovaleric acidemia, branched-chain ketoaclduria, fructose-1,6-bisphosphatase deficiency Neutropenia a Propionic, methylmalonic, or isovaleric acidemia; lysinuric protein intolerance Hypothermia Isovaleric acidemia, Menkes syndrome Distinctive odor Branched-chain ketoaciduria, isovaleric acidemia, glutaric acidemia II Jaundice, hepatomegaly, diarrhea, elevation Galactosemia, tyrosinemia 1, alpha-1-antitrypsin deficiency, 3-hydroxydicarboxyllc aciduria of liver enzymes, prolongation of prothrombin time and partial thromboplastin time t>,c,d.e Apnea, seizures, hiccupping, myoclonic jerking Nonketotic hyperglycinemia Dysmorphic features in association with Pyruvate dehydrogenase deficiency, glutaric acidemia li, Zellweger syndrome, neonatal hypotonia and seizures adrenoleukodystrophy continued TABLE III continued Diagnostic Clues with Greater Specificity for Neonate and Older Infant In the Older Infant Possible Significance ASSESSMENT ASSESSMENT OF THE INFANT WITH ACUTE METABOLIC PROBLEMS Lethargy, coma, seizures, and acidosis. Hereditary fructose intolerance, urea cycle defects, lysinuric protein intolerance. precipitated by food intake, often 3-methylcrotonyl CoA carboxylase deficiency associated with food aversion Lethargy, coma, seizures with prominent 2-Methylacetoacetyl CoA thiolase deficiency, intermittent branched-chaln ketoaciduria. ketosis, associated with aggravated fasting glutaric acidemia 1 (important non-genetic alternative: ketotlc hypoglycemia) Lethargy, coma, seizures with hypoglycemia Beta oxidation defects (particularly medlum-chain acyl CoA dehydrogenase deficiency). and minimal or absent ketosis (hypoketotlc 3-hydroxy-3-methylglutaryl CoA lyase deficience, glutaric acidemia II (Important non- hypoglycemia) associated with aggravated genetic alternative: hyperinsulinism) fasting Leigh disease (subacute necrotizing Pyruvate dehydrogenase deficiency f, complex 1 & complex IV respiratory chain defect 0 encephalomyelopathy) U biotinidase deficiency h Dystonia Lesch-Nyhan disease, glutaric acidemia 1, homocystlnuria k, methylmalonic acidemia1 Osteoporosis Propionic acidemia, lysinuric protein intolerance, homocystlnuria Renal tubular reabsorptive defects Tyrosinemia 1, galactosemia, hereditary fructose intolerance, glycogen storage disease a J, Pediatr. 700:62-65,1985 bj. Pediatr. 7 7 7:1039-1045,1987. cj. Pediatr. 777:313-319, 1987. d New Engl. J. Med. 327:1014-1021, 1092-1099, 1989. e J. Inher. Metab. DIs. 72:339-342,1989. f Pediatrics 79:370-373,1987. 0 J. Inher. Metab. Dis. 72Ó247-256, 1989. h Pediatr. Res. 26:260-266,1989. i Scriver, C.R.: The Metabolic Basis of Inherited Disease. 1989, pp. 869-888. JJ. Pedlatr. 174:340, 1989. kj. Pediatr. 7 73:863-864, 1988. 1J. Pediatr. 773:1022-1027,1988. TABLE
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