Inborn Errors of Metabolism 233
3
liver and muscle, and disorders of glycogen deg-
radation may affect the liver or muscle or both
[14]. The liver GSD include GSD I and the he-
patic presentation of GSD III [15]. Typical meta-
bolic features are lactic acidaemia and hypogly-
caemia. Variable organ dysfunction, most fre-
quently hepatomegaly, occurs. The goal of
treatment is to maintain normoglycaemia, pre-
vent hypoglycaemia and prevent secondary
complications. Treatments include frequent
meals, cornstarch supplementation and/or con-
tinuous overnight tube feeding to avoid hypo-
glycaemia. In GSD I, allopurinol reduces uric
acid levels in the blood to prevent gout and kid-
ney stones [14].
Conclusions- The treatment goal for all IEM is to achieve
optimal development and nutritional status
during childhood, and maximal indepen-
dence, social integration and self-esteem in
adolescence and adulthood - All conditions require diligent care, and IEM
are best managed by a multidisciplinary team
led by a physician - Attentive nutritional support with the provi-
sion of macronutrients and micronutrients to
meet dietary reference values/requirements is
essential - Frequent monitoring of growth, nutritional
intake, development and biochemical control
is necessary
11 Bouteldja N, Timson DJ: The biochemi-
cal basis of hereditary fructose intoler-
ance. J Inherit Metab Dis 2010; 33: 105–
112.
12 Steinmann B, Santer R: Disorders of
fructose metabolism; in Saudubray JM,
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pp 157–165.
13 van den Berghe G: Disorders of gluco-
neogenesis. J Inherit Metab Dis 1996; 19:
470–477
14 Laforet P, Weinstein DA, Smit PA: The
glycogen storage diseases and related
disorders; in Saudubray JM, van den
Berghe G, Walter JH (eds): Inborn Meta-
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ment, ed 5. Berlin, Springer, 2012, pp
115–116.
15 Kishnani PS, Austin SL, Arn P, Bali DS,
Boney A, Case LE, Chung WK, Desai
DM, El-Gharbawy A, Haller R, Smit GP,
Smith AD, Hobson-Webb LD, Wechsler
SB, Weinstein DA, Watson MS; ACMG:
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DOI: 10.1159/000360344