Manual of Clinical Nutrition

Inborn Errors of Metabolism

Manual of Clinical Nutrition Management III- 75 Copyright © 2013 Compass Group, Inc.

Disorder Enzyme Defect Nutrition

Intervention

Special Formulasa Possible Outcomes
Without Effective
Medical Treatment
Urea cycle
defects

Depends on defect.

Enzymes that may

be defective

include carb-

amoylphosphate

synthetase,

ornithine trans-

carbamoylase,

angininosuccinic

acid synthetase,

argininosuccinic

acid lyase,

arginase

Diet low in protein,

+/- L-amino acid(s)

missing or inactive

with defect.

All conditions

require a diet low

in sodium

benzoate, except in

the arginase defect.

UCD® (MJ),

Cyclinex® (RL)

Death, growth delay,

mental impairment,

seizures, hyperammonia

Organic
acidemia

Depends on defect.

Enzymes that may

be defective

include

methlmalonyl

coenzyme A

(CoA) mutase or

coenzyme B 12 or

propionyl CoA

carboxylase

Diet high in energy

and low in protein,

+/- L-amino acid(s)

missing or inactive

with defect.

For methlmalonyl

CoA mutase or

coenzyme B 12 ,

supplement with

B 12.

In acute state, give IV

fluids and

bicarbonate

OS® (MJ),

XMTVI Maxamaid®

(SHS),

Propimex® (RL)

Death, growth delay,

mental impairment,

renal disease, seizures,

hypoglycemia, metabolic

acidosis, hyperammonia

Galactosemia Galactose- 1 -
phosphate uridyl
transferase

Diet free of galactose

and lactose

Death, growth delay,
mental impairment,
liver dysfunction,
hypoglycemia
Fructose
intolerance

Fructose- 1 -

phosphate

aldolase

Diet free of fructose,

sucrose, and

sorbitol

Death, growth delay, renal
disease, liver
dysfunction,
hypoglycemia, metabolic
acidosis
Glycogen
storage
diseases

Type O: glycogen

synthetase

Type I: glucose 6-

phosphatase

Type III:

debrancher

enzyme

Type VI: hepatic

phosphorylase

Diet high in protein,

frequent

carbohydrate

feedings; high

protein feeding at

night

Normal diet with

high carbohydrate

feedings between

meals; nasogastric

drip at night

Diet with normal

energy and high

protein intake;

night feeding high

in protein

High protein diet and

frequent feedings

Death, growth delay, renal

disease, liver

dysfunction, seizures,

hypoglycemia, metabolic

acidosis

aMedical products are made by the following manufacturers: (MJ) Mead Johnson Nutritionals, Evansville, Ind; 800/755- 4805
(RL) Ross Laboratories, Columbus, Ohio; 800/986- 8755
(SHS) Scientific Hospital Supplies, Gaithersburg, Md; 800/365- 7354