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101: Inborn Errors of Metabolism with Acute Neonatal Onset

INTRODUCTION

Inborn errors of metabolism (IEMs) are a group of disorders that are of great importance to physicians treating newborns. The immediate diagnosis and appropriate treatment of these conditions are often directly linked to the patient's outcome to the extremes of avoiding death or irreversible brain damage. Pediatricians may feel overwhelmed by the number and complexity of these disorders (Table 101–1) and the interpretation of laboratory tests needed to establish the diagnosis. This chapter, therefore, concentrates on the symptom patterns, laboratory tests and their interpretation, as well as the initial stabilization of the patient rather than discussing details of the specific biochemical and genetic defects or special treatment measures of IEMs. Usually, the patient's ongoing treatment is supervised by a geneticist specially trained in biochemical genetics.

Table 101–1.INBORN ERRORS OF METABOLISM PRESENTING IN THE NEONATAL PERIOD AND INFANCY
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Table 101–1.INBORN ERRORS OF METABOLISM PRESENTING IN THE NEONATAL PERIOD AND INFANCY
Disorders of carbohydrate metabolism
 Galactosemia
 Fructose-1,6-bisphosphatase deficiency
 Glycogen storage disease (types IA, IB, II, III, and IV)
 Hereditary fructose intolerance
Disorders of amino acid metabolism
 Maple syrup urine disease
 Nonketotic hyperglycinemia
 Hereditary tyrosinemia
 Pyroglutamic acidemia (5-oxoprolinuria)
 Hyperornithinemia-hyperammonemia-homo citrullinemia syndrome
 Lysinuric protein intolerance
 Methylene tetrahydrofolate reductase deficiency
 Sulfite oxidase deficiency
Disorders of organic acid metabolism
 Methylmalonic acidemia
 Propionic acidemia
 Isovaleric acidemia
 Multiple carboxylase deficiency
 Glutaric acidemia type II (multiple acyl-CoA dehydrogenase deficiencies)
 HMG-CoA lyase deficiency
 3-Methylcrotonoyl-CoA carboxylase deficiency
 3-Hydroxyisobutyric aciduria
Disorders of pyruvate metabolism and the electron transport chain
 Pyruvate carboxylase deficiency
 Pyruvate dehydrogenase deficiency
 Electron transport chain defects
Disorders of the urea cycle
 Ornithine-transcarbamylase deficiency
 Carbamyl phosphate synthetase deficiency
 Transient hyperammonemia of the neonate
 Argininosuccinate synthetase deficiency (citrullinemia)
 Argininosuccinate lyase deficiency
 Arginase deficiency
 N-acetylglutamate synthetase deficiency
Lysosomal storage disorders
 GM1 gangliosidosis type I (β-galactosidase deficiency)
 Gaucher disease (glucocerebrosidase deficiency)
 Niemann-Pick disease types A and B (sphingomyelinase deficiency)
 Wolman disease (acid lipase deficiency)
 Mucopolysaccharidosis type VII (β-glucuronidase deficiency)
 I-cell disease (mucolipidosis type II)
 Sialidosis type II (neuraminidase deficiency)
 Fucosidosis
Peroxisomal disorders
 Zellweger syndrome
 Neonatal adrenoleukodystrophy
 Single enzyme defects of the peroxisomal β-oxidation
 Rhizomelic chondrodysplasia punctata
 Infantile Refsum disease
Miscellaneous disorders
 Adrenogenital syndrome (21-hydroxylase and other deficiencies)
 Disorders of bilirubin metabolism (Crigler-Najjar syndrome and others)
 Pyridoxine-dependent seizures
 α1-Antitrypsin deficiency
 Fatty acid oxidation disorders (short, medium, and long chain)
 Cholesterol biosynthesis defects (Smith-Lemli-Opitz syndrome)
 Congenital disorders of protein glycosylation (carbohydrate-deficient glycoprotein syndromes)
 Neonatal hemochromatosis

CoA, coenzyme A; HMG, 3-hydroxy-3-methylglutaryl.

I. CLASSIFICATION

  1. Classification by time of onset. Because of the nature of this manual, we concentrate here on metabolic disorders with onset in the neonatal period and early infancy. Be aware, however, that onset of a disease in later infancy or even in adolescence and adulthood does not exclude the diagnosis of an IEM. It is also important to realize that, even with comprehensive and well-organized neonatal screening programs, a number of IEMs present clinically before they are detected ...

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