METABOLIC DISORDERS

• Inborn Error of Metabolism
• Diabetes Mellitus
• Hypercholesterolemia
• Idiopathic Reactive Hypoglycemia
• Osteoporosis

 

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Inborn Error of Metabolism

 

General information:

Inborn errors of metabolism occupy an important place in pediatric dietetics. In these disorders, one or more enzymes, co-factors or transport proteins are either not synthesized or are synthesized incorrectly. As a result, disorders may arise in metabolism of proteins, fats and carbohydrates. Phenylketonuria (PKU) and galactosemia are well-known examples.

 

Many inborn errors are associated with damage to the central nervous system, with far-reaching consequences for both mental and physical development. In some cases, it is possible to limit or prevent damage by limiting the supply of one or more nutrients for which metabolism is defective.

 

Treatment of these patients usually takes place in a specialized university clinic. The patient will be referred to a dietician immediately following diagnosis if dietary treatment is required. Dietary treatment is necessary to prevent the harmful effects of the disorder, and has proven to be completely or partially successful. Intensive counseling and guidance from the dietician is necessary due to the life-long nature of the disorder and the complexity of the diet, but also in order to customize and adjust the diet for growth and needs, according to the most recent scientific research.

 

As a result of the growing understanding of inborn errors of metabolism, improved diagnosis and improved treatments, the quality of life has improved and life expectancy has increased. This means that there will be an increasing number of adult patients with inborn errors of metabolism in the future.

 

Treatment time:

• Care level 6, see “Dietician’s working methods.”

 

References:

Fernandes J, Saudubray JM et al. Inborn metabolic diseases, diagnosis and treatment. 4th ed. Berlin Heidelberg New York: Springer-Verlag; 2006

 

Shaw V, Lawson M. Clinical paediatric dietetics. 3d ed. Oxford/London: Blackwell Science: 2007

 

Inborn Errors of Metabolism was written by Greet van Rijn, dietician at Universitair Medisch Centrum Groningen (UMCG)/Beatrix Kinderziekenhuis and Dorien van den Hurk, dietician at Universitair Medisch Centrum Utrecht (UMCU)/Wilhelmina Kinderziekenhuis

(WKZ), writing also on behalf of the Metabool Overleg Diëtisten Academische

Ziekenhuizen (MODAZ) and the Adviescommissie Neonatale Screening voor Metabole Ziekten (ANS-MZ), a committee of the Nederlandse Vereniging voor Kindergeneeskunde (NVK).

 

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Diabetes Mellitus

 

Best time to refer to the dietician:

• directly after diagnosis and in the following situations:

• adults: if there is overweight, underweight, undesired weight gain or weight loss of more than 5 kg in 3 months and/or a waist circumference in women of > 80 cm or in men of > 94 cm and/or hypertension and/or abnormal lipid spectrum in a later phase than after diagnosis
• children: if there is overweight, underweight, undesired weight gain or weight loss, depending on the growth curve
• when there is a change in the type, dosage and administration of the hypoglycemic drugs (tablets and/or insulin)
• if the patient wants to achieve the optimal effect with self-monitoring
• if it must be investigated whether the patients dietary habits will impede optimal regulation
• if there is not optimal regulation of the diabetes in general
• when there is a change in life circumstances or job
• when there might be an eating disorder
• if there are gastrointestinal problems
• when there are complications that warrant modification of the diet (such as renal dysfunction or gastroparesis)
• if the patient wants to have a child or is already pregnant
• when there are other specific questions or problems with food or nutrition

 

Relevant information for the dietician:

• Diagnosis of diabetes mellitus (DM) + type (I or II, with or without excess weight), duration of the DM, potential complications (nephropathy, neuropathy, gastroparesis), any comorbid conditions
• Laboratory tests: HbA1c¹, glucose, total cholesterol, triglycerides, HDL cholesterol, LDL cholesterol (lipid values right after making the diagnosis of DM are not entirely reliable, due to disturbance from hyperglycemia)
• Medication: oral hypoglycemic agents / insulin + regimen /type of insulin, dosage and regimen
• Other: height, (changes in) weight, waist circumference, blood pressure.

 

Aims of the diet:

• Normalize blood sugar levels: aim for fasting blood glucose levels between 4.0-6.1 mmol/L (capillary blood) or 4.5-6.9 mmol/L (venous blood), postprandial 4.0-9.0 mmol/L, HbA1c <53 mmol/mol
• Normalize blood pressure and lipid profile
• Prevent postponement of complications related to diabetes, i.e. micro- and macroangiopathies
• Normalize body weight and waist circumference.

 

Characteristics of the diet:

• Carbohydrates:

Children

• achieve a balance between medication, carbohydrate intake, physical activity and stress (if possible, self-regulation through regular self-monitoring)
• functional distribution of carbohydrates throughout the day
• 50-55% of energy in the form of carbohydrates
• > 1 year: dietary fibers: 2.8-3.4 g/MJ per day.

Adults

• achieve a balance between medication, carbohydrate intake, physical activity and stress (if possible, self-regulation through regular self-monitoring)
• functional distribution of carbohydrates throughout the day
• at least 40% of daily caloric intake in the form of carbohydrates
• dietary fibers: 3.4 g/MJ per day.

• Fats:

Children

• 30-35% energy
• saturated fats: not to exceed 10% of caloric intake
• trans-fatty acids: not to exceed 1% of caloric intake
• polyunsaturated fats (PUFA): not to exceed 10% of caloric intake
• monounsaturated fats (MUFA): 10-20% of caloric intake
• omega-3 fatty acids (fish oils): 0.45 g/day.

Adults

• 20-40% of energy
• saturated fats: not to exceed 10% of caloric intake
• trans-fatty acids: not to exceed 1% of caloric intake
• polyunsaturated fats: not to exceed 12% of caloric intake
• omega-3 fatty acids (fish oil, EPA and DHA): 450 mg
• cholesterol: not to exceed 300 mg.

• in the event of dyslipidemia, 2-3 g of phytosterol/phytostanol daily is advised to supplement the recommendations above aimed at restoring normal lipid levels (decrease in LDL and total cholesterol levels to up to a maximum of 15%). This also applies to children 5 years and older.
• If overweight, see “Overweight,” with extra attention to preventing hypoglycemia and personal advice being the responsibility of the whole team.

 

Treatment time:

• Care level 2*, see “Dietician’s working methods.”

 

Specific remarks:

• Sucrose (sugar) doesn't occupy a special position as a carbohydrate, and therefore does not need to be advised against, except in the case of overweight.
• Products sweetened with nutritive sweeteners (“sugar-free products for diabetics”) are not recommended.
• The hypoglycemic effect of alcohol consumption is discussed as part of the dietary counseling.
• For hypoglycemia in adults, it is recommended to take 15-20 g carbohydrates (preferably glucose dissolved in a liquid) and evaluate the effect 20 minutes later. For children this is 0.5 gram glucose/kg body weight, with a maximum of 20 g glucose, and evaluate the effects in 15-20 minutes.
• Lifestyle counseling is an important part of the dietary treatment of DM type 2.

 

¹ As of April 6, 2010, HbA1c is measured in units of mmol/mol.

 

The new nutritional guidelines for diabetes, published by the Dutch Diabetes Foundation (NDF), are expected in 2010. These guidelines can be downloaded at www.diabetesfederatie.nl. This website also contains other NDF and NHG  guidelines.

 

References:

Aslander-Van Vliet E. Het voedingsadvies bij diabetes mellitus. In: Handboek Diabetes Mellitus, de Tijdstroom, Utrecht: 2004

 

Kooy A. Diabetes melltius, diagnostiek, complicaties en behandeling. Houten: 2008

 

Maljaars C, Burgt EHAM van de, et al. Diabetes mellitus. In: Dieetbehandelingsprotocollen.

Elsevier/De Tijdstroom. Maarssen: 2007

 

Nederlandse Diabetes Federatie. Voedingsrichtlijnen bij diabetes. Amersfoort: 2006

 

Smart C, Aslander-Van Vliet E, Waldron S. Nutritional management in children and adolescents with diabetes. Pediatric Diabetes 2009:10 (Suppl. 12): 100-117

 

Diabetes Mellitus was updated by Linda Swart, dietician at Universiteit Medisch Centrum Groningen (UMCG) and Tanja Lappenschaar, dietician at Diabeter Deventer, written also on behalf of the Stichting Diabetes and Nutrition Organization (DNO).

 

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Hypercholesterolemia

Adults

 

Best time to refer to the dietician:

• following diagnosis:

• hypercholesterolemia¹, with or without diabetes mellitus and/or overweight condition (BMI > 25 kg/m2) and/or hypertension
• hereditary hypercholesterolemia and/or hypertriglyceridemia (total cholesterol (TC) > 8 mmol/L of total cholesterol/HDL ratio > 8).

• when the following exists:

• individuals without coronary heart disease, with parents or siblings under age 60 who have coronary heart disease
• patients with a prior history of cardiac infarction or other symptomatic vascular disease
• individuals without cardiovascular disease, but with an elevated risk of coronary heart disease based on the SCORE risk chart.

 

Relevant information for the dietician:

• Diagnosis: (family history of) hypercholesterolemia/combined hyperlipidemia, any comorbid conditions
• Laboratory tests: total cholesterol, HDL cholesterol, triglycerides, LDL cholesterol
• Medication: lipid-lowering drugs
• Other: height, (changes in) weight

 

Aims of the diet:

• reduce the risk of coronary heart disease by:

• improving the TC/HDL ratio (< 5 mmol/L)
• increasing intake of vegetables, fruit, whole grain products and omega-3 fatty acids

 

Characteristics of the diet:

• Fats:

• total fat: 20-40% of caloric intake at a healthy weight, 20-35% of caloric intake for overweight individuals (BMI > 25 kg/m2)
• <10% of total caloric intake in saturated fats
• < 1% of caloric intake in trans-fatty acids
• maximum 300 mg cholesterol
• minimum 200 g vegetables and 2 portions of fruit
• 450 mg omega-3 fatty acids (EPA and DHA)
• If there is not enough fish in the diet, an acceptable alternative is nutritional fish oil-enriched products or fish oil capsules
• linoleic acid: 2% of total caloric intake
• alpha linoleic acid: 1% of caloric intake.

• alcohol: women – no more than 1 glass per day, men – no more than 2 glasses per day
• maximum 6 g salt per day
• dietary fibers: 3.4 g/MJ per day
• for hypertriglyceridemia: follow hypercholesterolemia guidelines, plus no alcohol
• for diabetes mellitus: see “Diabetes Mellitus”
• if overweight, see “Overweight”

 

Treatment time:

• Care level 2, see “Dietician’s working methods.”

 

Specific remarks:

• Good compliance with the diet can reduce the need for lipid-lowering drugs.
• The dietician attends to both the diet and a healthy lifestyle: no smoking, adequate exercise, avoiding gaining too much weight.

¹ Hypercholesterolemia is said to exist when the average of 2 measurements of the total cholesterol/HDL ratio > 5 mmol/L and/or fasting triglyceride concentration is > 1.7 mmol/L.

 

References:

CBO. Multidisciplinaire richtlijn Cardiovasculair risicomanagement. Utrecht: 2006

 

Nederlandse Hartstichting. Risicokaart voor Coronaire Hartziekten. Den Haag: 1999

 

 Hypercholesterolemia was updated by Marianne de Jong and Madelon Klunder, dieticians at Universitair Medisch Centrum Groningen (UMCG), writing also on behalf of the Nederlandse Werkgroep Diëtisten Cardiologie (NWDC).

 

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Idiopathic Reactive Hypoglycemia

 

Best time to refer to the dietician:

• during the diagnostic phase, in which the foods in the diet are evaluated in terms of the symptoms and the blood sugar levels.
• When the criteria for the Whipple triad are met: at the time of hypoglycemic symptoms, there is a biochemical hypoglycemia (blood sugar levels below 2.8 mmol/L); the symptoms are relieved when the blood sugar levels recover by eating sugar.

 

Relevant information for the dietician:

• Diagnosis: (suspected) idiopathic reactive hypoglycemia, and any comorbidity
• Laboratory tests: blood sugar levels obtained from self-monitoring
• Symptoms (2 to 5 hours after a meal): adrenergic symptoms such as shaking, sweating, palor, nausea, heart palpitations, hunger, tingling and/or cerebral symptoms such as dizziness, confusion, fatigue, speech disorders, headache, difficulty concentrating, weakness, visual disturbances, changes in behavior
• Other: psychological factors such as anxiety, tension, depression

 

Aims of the diet:

• to attain normal glycemic levels
• to reduce symptoms

 

Characteristics of the diet:

• Carbohydrates:

• 4 or more meals containing carbohydrates daily
• preference for the use of polysaccharides; normal use of mono- and disaccharides (no more than 15-25% of caloric intake) within equally balanced meals, and occasionally greater restriction

• Dietary fibers: at least 15 g dietary fibers /1000 kcal and/or aim for 10-15 g dietary fibers more than in the usual diet
• Moderate consumption of alcohol and caffeine

 

Treatment time:

• Care level 1, see “Dietician’s working methods.”

 

Specific remarks:

• Pathophysiological mechanisms that may play a role are: emotional distress, increased activity of the pituitary-adrenal axis and a heightened sensitivity to insulin, possibly in combination with a glucagon deficiency.
• Activation of the adrenergic system (for example due to anxiety, stress, depression or caffeine) seems to have a cumulative effect.

 

References:

Arentz DH. Hypoglykemie. Huisarts Wet 1998;41(1):23-9

 

Berlin I, Grimaldi A et al. Suspected postprandial hypoglycemia is associated with beta-adrenergic hypersensitivity and emotional distress. J Clin endocrinol Metab 1994;79,1428-33

 

Brun JF, Fedou C et al. Evaluation of a standarized hyperglucidic breakfast test in postprandial reactive hypoglycaemia. In: Diabetologica 1995;38,495-501

 

Debrah K, Sherwin RS et al. Effect of caffeine on recognition of and physiological responses to hypoglycaemia in insulin-dependent diabetes. Lancet 1996;347(8993):19-24

 

Nelson JK, Moxness KE et al. Mayo clinic diet manual. A handbook of nutrition practices. In: Mosby year book; 1994. p. 183-5

 

Idiopathic reactive hypoglycemia was written by Mieke Paleari, dietician working at Vierstroom Weten & Eten.

 

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Osteoporosis

Adults

 

Best time to refer to the dietician:

Preventative (for patients with a high risk of developing osteoporosis):

• when corticosteroids are prescribed ≥ 7.5 mg prednisolone equivalent per day for postmenopausal women and for men over age 70, if the duration of treatment is expected to be 3 or more months
• when prednisolone equivalent of ≥ 15 mg is prescribed for a period of 3 or more months

Treatment:

• following diagnosis of osteopenia by means of dual-energy x-ray (DEXA) scan with a Tscore of -1 to -2.5
• following diagnosis of osteoporosis by means of dual-energy x-ray (DEXA) scan with a Tscore < -2.5

 

Relevant information for the dietician:

• Diagnosis: osteoporosis and its cause, any comorbid conditions
• Medication: calcium, vitamin D, sex hormones, bisphosphonates, fluoride, prednisolone equivalent.

 

Aims of the diet:

• to delay (further) bone loss and limit fractures.

 

Characteristics of the diet:

• Calcium: 1000-1200 mg depending on age and sex. For celiac disease, cirrhosis of the liver and poor fat absorption with inflammatory bowel disease: 1500 mg.
• Follow national Nutritional Guidelines, with extra attention to vitamin D and calcium
• Protein: based on recommended allowances
• Ensure moderate consumption of salt, alcohol, caffeine and oxalate

 

Treatment time:

• Care level 1, see “Dietician’s working methods.”

 

Specific remarks:

• It is necessary to supplement calcium and vitamin D.

10 μg vitamin D extra daily is recommended for:

• individuals ages 4 to 50 years (women) or 70 years (men) who are dark-complexioned or get insufficient exposure to the sun
• women up to age 50 who wear a veil
• women who are pregnant or breastfeeding
• fair-complexioned women beginning at age 50 and men beginning at age 70 who do have adequate exposure to the sun.

20 μg vitamin D extra daily is recommended for:

• individuals who have osteoporosis
• individuals who live in an assisted living facility or nursing home
• women beginning at age 50 and men beginning at age 70 who are dark-complexioned or who have insufficient exposure to the sun
• women beginning at age 50 who wear a veil

• In addition to the diet, the dietician devotes attention to motivating the individual to engage in weight-bearing exercise and to spend 15 minutes a day outdoors.

 

References:

CBO Werkgroep ’Tweede herziening richtlijn osteoporose’. Osteoporose. Tweede herziene richtlijn. Utrecht: 2002

 

Daele PLA van, Pols HAP. Metabole botafwijkingen bij maag-, darm- en leverziekten. Ned Tijdschr Geneesk 2000;144:462-7

 

Gezondheidsraad. Naar een toereikende inname van vitamin D. Den Haag: 2008, publicatienr. 2008/15. ISBN 978-90-5549-729-4

 

Grootjans-Geerts I. Hypovitaminose D: een versluierde diagnose. Ned Tijdschr Geneesk 2001;145:2057-60

 

Osteoporosis was updated by Wilma Meijer-De Kieviet, dietician at AxionContinu, also on behalf of the network Diëtisten Verpleeg- en Verzorgingshuizen (DV&V).