Pediatric emergency medicine trisk 2451 2451
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dysfunction, hypotonia, seizures, metabolic acidosis, and hyperammonemia. Patients with very longchain acyl-CoA dehydrogenase deficiency or long-chain L -3-hydroxyacyl-CoA dehydrogenase
deficiency may have exercise-induced rhabdomyolysis. Patients may be normal between episodes of
decompensation or may have chronic manifestations of disease that can include failure to thrive,
developmental delay, chronic peripheral neuropathy, motor deficits (with long-chain L -3-hydroxyacylCoA dehydrogenase deficiency), retinitis pigmentosa (with glutaric acidemia type II), cardiac
dysfunction, and dysmorphic facial features. Patients with a fatty acid oxidation defect are at risk for
SIDS and cardiac arrest due to hypertrophic cardiomyopathy and/or cardiac arrhythmia. Women who are
pregnant with a fetus affected with long-chain L -3-hydroxyacyl-CoA dehydrogenase deficiency are, as
carriers, at risk for HELLP syndrome.
During decompensation, laboratory assessment should include electrolytes, BUN, creatinine, blood
gas, glucose, AST, ALT, alkaline phosphatase, PT, PTT, bilirubin, ammonia, carnitine, and creatinine
phosphokinase.
Management
After administration of bolus fluid and correction of any hypoglycemia, D10 in ½ normal saline should be
continued at 1 to 1.5 times maintenance, along with insulin, if needed, to maintain serum glucose level at
120 to 170 mg/dL. Sodium bicarbonate should be administered for bicarbonate less than 16 mg/dL. In
patients with fatty acid oxidation defects, correction of acidosis and hypoglycemia usually corrects
hyperammonemia. Administration of L -carnitine is controversial because in excess, long-chain
acylcarnitine may produce cardiac arrhythmias; therefore, L -carnitine should be administered only after
consulting a metabolism specialist. Drugs that induce hypoglycemia and epinephrine, which stimulates
lipolysis, should be avoided, and if they must be given, glucose concentration should be maintained with
dextrose. Medium chain triglyceride (MCT) oil is beneficial for children with Very Long Chain Acyl
Dehydrogenase (VLCADD) Deficiency but it is dangerous for other fatty acid oxidation defects. Clinical
and laboratory parameters should be monitored until the patient is stabilized and tolerating fluid well.
Long-term patients may be on a high-carbohydrate, low-fat diet that includes a complex carbohydrate
such as cornstarch to avoid hypoglycemia. Asymptomatic siblings and parents should be tested. The New
England Consortium of Metabolic Programs details treatment for specific fatty acid oxidation defects on
their
website
.
CARBOHYDRATE DISORDERS
Disorders of Carbohydrate Intolerance
Galactosemia. Classic galactosemia, characterized by less than 1% galactose-1-phosphate
uridyltransferase activity, results in clinical symptoms usually within the first week of life, often within
the first 2 to 3 days, and may be rapidly fatal.
Goals of Treatment
Treatment goals specific for galactosemia are to eliminate galactose from the diet and recognizing and
treating possible sepsis.
Clinical Considerations
Assessment
Manifestations include poor feeding, vomiting, diarrhea, failure to thrive, bulging fontanelle lethargy that
may progress to coma, jaundice and coagulopathy due to liver disease, and/or sepsis, classically with E.
coli, which may be the initial manifestation. Most newborns will have cataracts although they may only
be appreciated by slit lamp examination.
