Nutrition Assessment Guidelines

This section includes general guidelines for monitoring effect of nutrition intervention in many different metabolic disorders.

NUTRITION ASSESSMENT GUIDELINES

This section includes general guidelines for monitoring effect of nutrition intervention in many different metabolic disorders.

Assessment Marker

Specific Parameters

Inborn Error
Most Requiring Assessment

Growth

Length/height, head circumference (age-dependent)

All Patients

Nutrition Adequacy

3-day diet records before blood or urine collection; full nutrient analysis

All Patients

Protein Status Indices

Total protein, albumin, transthyretin (prealbumin)

All Patients

Plasma Amino Acids

Amino acid profile, including tryptophan and homocyste(i)ine

Disorders of amino acid metabolism; organic acidemias

Organic Acids (blood, urine)

Organic acid profile, include carnitine esters

Organic acidemias, fatty acid disorders, peroxisomal disorders

Serum Carnitine

Free and esters (bound)

Organic acidemias, fatty acid disorders

Essential Fatty Acid Profile

Blood and Erythrocyte EFA

Fatty acid disorders or disorders where fat is restricted in the diet

Iron Status Indices

Hemoglobin, hematocrit, ferritin

All Patients

Trace Element Status

Selenium/glutathione peroxidase, zinc

Disorders of amino acid metabolism, organic acidemias and any disorder requiring elemental medical foods