Biochemical Nutritional Markers and Interpretation

(in blood, urine, feces, tissue)

JULISTIO DJAIS
DIVISI NUTRISI & PENYAKIT METABOLIK
SMF ILMU KESEHATAN ANAK RSHS - BANDUNG
Nutrition assessment, is a systematic method for obtaining, verifying,
and interpreting data needed to identify nutrition-related problems, their
causes, and significance.
Biochemical Data,
Food/Nutrition- Anthropometric Nutrition-Focused
Medical Tests, Client History
Related History Measurements Physical Findings
and Procedures

Nutrition diagnosis is the identification and selection of terminology

for the specific nutrition problem that nutrition and dietetics practitioners
can resolve or improved through treatment/nutrition intervention
Intake Clinical Behavioral-Environmental
 NUTRITION ASSESSMENT
Biochemical Data, Medical Tests, and Procedures

INGESTION – DIGESTION – ABSORPTION – UTILIZATION

INADEQUACY OR EXCESS

APPROPRIATE NUTRITION DIAGNOSIS

INGESTION – DIGESTION – ABSORPTION – UTILIZATION
PASIEN TERSKRINING GIZI ATAU RUJUKAN PETUGAS KESEHATAN LAIN KE DIETISIAN

Step 1: gather data from medical records

Step 2: verify in patient interview
Step 3: complete nutrition history questionnaire
Step 4: Identify indicators and establish whether the data are within normal
parameters using comparative standards

Begin the process of identifying terms by asking the following questions:

• Which terms can be used to describe the data so that it can be extracted in the future?
• Which data are new vs. already existing in the medical record?
• What parameters or comparative standards can be used to evaluate the data?
• What additional data are needed to make a definitive nutrition diagnosis?

Determine the relevant nutrition assessment data

BIOCHEMICAL DATA, MEDICAL TESTS AND PROCEDURES

Acid-base balance (1.1)

Electrolyte and renal profile (1.2)
Essential fatty acid profile (1.3)
Gastrointestinal profile (1.4)
Glucose/endocrine profile (1.5)
Inflammatory profile (1.6)
Lipid profile (1.7)
Metabolic rate profile (1.8)
Mineral profile (1.9)
Nutritional anemia profile (1.10)
Protein profile (1.11)
Urine profile (1.12)
Vitamin profile (1.13)
Carbohydrate metabolism profile 1.14)
Fatty acid profile (1.15)
 BIOCHEMICAL DATA, MEDICAL TESTS AND PROCEDURES

Acid-base balance (1.1)

Electrolyte and renal profile (1.2)
Essential fatty acid profile (1.3)
Gastrointestinal profile (1.4)
Glucose/endocrine profile (1.5)
Inflammatory profile (1.6)
Lipid profile (1.7)
Metabolic rate profile (1.8)
Mineral profile (1.9)
Nutritional anemia profile (1.10)
Protein profile (1.11)
Urine profile (1.12)
Vitamin profile (1.13)
Carbohydrate metabolism profile 1.14)
Fatty acid profile (1.15)
INTAKE
Increased energy expenditure
Inadequate energy intake
Excessive energy intake
Predicted inadequate energy intake
Predicted excessive energy intake

Inadequate oral intake

Excessive oral intake
Inadequate enteral nutrition infusion
Excessive enteral nutrition infusion
Enteral nutrition composition inconsistent with needs
Enteral nutrition administration inconsistent with needs
Inadequate parenteral nutrition infusion
Excessive parenteral nutrition infusion
Parenteral nutrition composition inconsistent with needs
Parenteral nutrition administration inconsistent with needs
Limited food acceptance
Inadequate fluid intake
Excessive fluid intake

Inadequate bioactive substance intake

Excessive bioactive substance intake

Increased nutrient needs (specify)

Inadequate protein-energy intake
Decreased nutriet needs (specifu)
Imbalance of nutriets

Inadequate fat intake

Excessive fat intake
Intake of types of fat inconsistent with needs (specify)

Inadequate protein intake

Excessive protsin intake
Intake of types of protein inconsistent with needs (specify)
Intake of types of amino acids inconsistent with needs (specify)
Inadequate carbohydrate intake
Excessive carbohydrate intake
Intake of types of carbohydrate inconsistent with needs (specify)
Inconsistent carbohydrate intake
Inadequate fiber intake
Excessive fiber intake

Inadequate vitamin intake (specify)

Excessive vitamin intake (specify)

Inadequate mineral intake (specify)

Excessive mineral intake (specify)

Predicted inadequate nutrient intake (specify)

Predicted excessive nutrient intake (specify)
CLINICAL
Swallowing difficulty
Biting/chewing difficulty
Breastfeeding difficulty
Altered GI function
Predicted breastfeeding difficulty

Impaired nutrient utilization

Altered nutrition-related laboratory value (specify)
Food-medication interaction (specify)
Predicted food-medication interaction (specify)

Underweight
Unintended weight loss
Overweight / Obesity
Unintended weight gain
Growth rate below expected
Excessive growth rate

Malnutrition
BEHAVIORAL-ENVIRONMENTAL
Food and nutrition-related knowledge deficit
Unsupport belief/attitude about food and nutrition-related topics
Not ready for diet/lifestyle change
Self-monitoring deficit
Disordered eating pattern
Limited adherence to nutrition-related recommendations
Undesirable food choices

Physical inactivity
Excessive physical activity
Inability to manage self-care
Impaired ability to prepare foods / meals
Poor nutrition quality of life
Self feeding difficulty

Intake of unsafe food

Limited access to food
Limited access to nutrition-related supplies
Limited access to potable water
EXCESSIVE ENERGY INTAKE
• Abnormal liver function tests after prolonged exposure (3 to 6 weeks) to parenteral nutrition
• ↑ Respiratory quotient >1.0
Metabolic rate profile (1.8)
EXCESSIVE ENTERAL NUTRITION INFUSION • Resting metabolic rate, measured
• Respiratory quotient, measured
• ↑ BUN:creatinine ratio (protein)
• Hyperglycemia (carbohydrate) Acid-base balance (1.1
• Hypercapnia • Partial pressure of carbon dioxide in arterial blood (PaCO2)

EXCESSIVE PARENETRAL NUTRITION INFUSION Gastrointestinal profile (1.4)

• ↑ BUN:creatinine ratio (protein) • Alanine aminotransferase (ALT)
• Hyperglycemia (carbohydrate) • Aspartate aminotransferase (AST)
• Hypercapnia
• ↑ liver enzymes Electrolyte and renal profile (1.2)
• BUN
• Creatinine
• BUN:creatinine ratio

Glucose/endocrine profile (1.5)

• Glucose, fasting
• Glucose, casual
INADEQUATE FLUID INTAKE
• Plasma or serum osmolality greater than 290 mOsm/kg
• Abnormal BUN, Na
• ↓ Urine volume
• ↑ Urine specific gravity
• Hyperglycemia in diabetic patient/client

EXCESSIVE FLUID INTAKE

•↓ Plasma osmolality (270-280 mOsm/kg), only if
positive fluid balance is in excess of positive sodium Urine profile (1.12)
balance • Urine specific gravity
•↓ Serum sodium in SIADH • Urine volume
•↓ Urine specific gravity
Electrolyte and renal profile (1.2)
• BUN
• Sodium
• Serum osmolality
INADEQUATE FAT INTAKE
• ↑ Triene:tetraene ratio > 0.2

EXCESSIVE FAT INTAKE

• ↑ Cholesterol > 200 mg/dL (5.2 mmol/L), ↑ LDL cholesterol > 100 mg/dL (2.59 mmol/L), ↓ HDL cholesterol < 40 mg/dL
(1.036 mmol/L), ↑ triglycerides > 150 mg/dL (1.695 mmol/L)
• ↑ Serum amylase and/or lipase
• ↑ LFTs, T. bilirubin
• ↑ Fecal fat > 7g/24 hours

INTAKE OF TYPES OF FATS INCONSISTENT WITH NEEDS (specify)

• ↑ Cholesterol > 200 mg/dL (5.2 mmol/L), ↑ LDL cholesterol > 100 mg/dL (2.59 mmol/L), ↓ HDL cholesterol <
40 mg/dL (1.036 mmol/L) men, ↓ HDL cholesterol < 50 mg/dL (1.3 mmol/L) women, ↑ triglycerides > 150 mg/dL
(1.695 mmol/L)
• ↑ Serum amylase and/or lipase
• ↑ LFTs, T. bilirubin, C-reactive protein
• Altered acylcarnitine, carnitine, and other measures of fatty acid metabolism
• Elevated triene:tetraene ratio (>0.2)
• Altered fatty acid panel mitochondrial C8-C18, serum or plasma (µmol/L)
• Altered fatty acid panel mitochondrial C2-C22, serum or plasma (µmol/L)
• Altered fatty acid panel mitochondrial C22-C26, serum or plasma (µmol/L)
Essential fatty acid profile (1.3)
• Triene:Tetraene ratio

Lipid profile (1.7)

• Cholesterol, serum
• Cholesterol, HDL
• Cholesterol, LDL
• Cholesterol, non-HDL
• Total cholesterol:HDL cholesterol ratio
• LDL:HDL ratio
• Triglycerides, serum

Fatty acid profile (1.15)

• Acylcarnitine panel
• Acylcarnitine, plasma
• Free carnitine
• Total carnitine
• Free carnitine:total carnitine
• Fatty acid panel mitochondrial C8-C18
• Fatty acid panel essential C12-C22
• Fatty acid panel peroxisomal C22-C26
EXCESSIVE PROTEIN INTAKE
• Altered laboratory values, e.g., ↑ BUN, ↓ glomerular filtration rate (altered renal status)

INTAKE OF TYPES OF PROTEIN INCONSISTENT WITH NEEDS (specify)

• Altered laboratory values, e.g., ↑ BUN, ↓ glomerular filtration rate (altered renal status)
• ↑ specific amino acids (inborn errors of metabolism)
• ↑ homocysteine or ammonia
• Positive autoantibody levels (Anti-tTG antibodies, EmA IgA tissue transglutaminase [tTG] and IgA
endomysial antibodies [EMA])
• Positive small bowel biopsy for celiac or other GI disease

INTAKE OF TYPES OF AMINO ACIDS INCONSISTENT WITH NEEDS (specify)

• ↑ or ↓ specific amino acids, serum, plasma or urine
• ↑ ammonia, serum
Protein profile (1.11)
• Albumin • Isoleucine • Citrate
• Prealbumin • Leucine • Propionate
• Transferrin • Ornithine • Methylcitrate
• Phenylalanine, plasma • Lysine • 3-hydroxy propionate
• Tyrosine, plasma • Histidine • ß-hydroxy butyrate
• Amino acid panel • Arginine • Creatine kinase
• Phenylalanine, dried blood spot • Lysine:arginine ratio • Troponin I. cardiac
• Tyrosine, dried blood spot • Tryptophan • Troponin T. cardiac
• Phenylalanine:tyrosine • Plasma organic acid panel • B-type natriuretic peptide
• Hydroxyproline • Organic acids/creatinine • Succinylacetone
• Threonine • 3-hydroxybutyrate • Total serum immunoglobulin A
• Serine • 3-hydroxyisovalerate • Tissue transglutaminase antibodies (IgA)
• Asparagine • Acetoacetate • Tissue transglutaminase antibodies (IgG)
• Glutamate • Ethylmalonate • Deamidated gliadin peptide antibodies (IgG)
• Glutamine • Succinate • Endomysial antibodies
• Proline • Fumarate • Carbohydrate-deficient transferrin
• Glycine • Glutarate
• Alanine • 3-methylglutarate
• Citrulline • Adipate
• Valine • 2-hydroxyglutarate
• Cysteine • 3-hydroxyphenylacetate
• Methionine • 2-ketoglutarate
EXCESSIVE CARBOHYDRATE INTAKE
• Hyperglycemia (↑ fasting blood glucose > 126 mg/dL)
• ↑ Hemoglobin A1C > 6%
• ↑ Oral glucose tolerance test (2-hour post load glucose > 200 mg/dL)

INTAKE OF TYPES OF CARBOHYDRATE INCONSISTENT WITH NEEDS (specify)

• Hypoglycemia or hyperglycemia
• ↓ galactose-1-phosphate in red blood cells, ↓ galactose-1-phosphate uridyl
transferase, ↓ fructose
Glucose/endocrine profile (1.5)
• Glucose, fasting
• Glucose, casual
• Hemoglobin A1c (HgbA1c)
• Glucose tolerance test
Carbohydrate metabolism profile (1.14)
• Galactose-1-phosphate in red blood cell
• Galactose-1-phosphate uridyl transferase
• Fructose
 INADEQUATE VITAMIN INTAKE (specify)

• Vitamin A: ↓ serum retinol < 10 µg/dL (0.35 µmol/L)

• Vitamin C: ↓ plasma concentrations < 0.2 mg/dL (11.4 µmol/L)
• Vitamin D: ↓ 25(OH)D <50 nmol/L, ↓ ionized calcium < 3.9 mg/dL (0.98 mmol/L) with ↑ parathyroid
hormone, normal serum calcium, and ↓ serum phosphorus < 2.6 mg/dL (0.84 mmol/L)
• Vitamin E: ↓ plasma alpha-tocopherol < 18 µmol/g (41.8 µmol/L)
• Vitamin K: ↑ prothrombin time; altered INR (without anticoagulation therapy)
• Thiamin: ↑ erythrocyte transketolase activity > 1.20 µg/mL/h
• Riboflavin: ↑ erythrocyte glutathione reductase > 1.2 IU/g hemoglobin
• Niacin: ↓ N’methyl-nicotinamide excretion < 5.8 µmol/day
• Vitamin B-6: ↓ plasma pryrdoxal 5’phosphate <5 ng/mL (20 nmol/L)
• Vitamin B-12: ↓ serum concentration < 24.4 ng/dL (180 pmol/L); ↑ homocysteine
• Folic acid: ↓ serum concentration < 0.3 µg/dL (7 nmol/L); ↓ red cell folate < 315 nmol/L
• Pantothenic acid: ↓ plasma
• Biotin: ↓ serum
 EXCESSIVE VITAMIN INTAKE (specify)

• Vitamin D: ↑ 25(OH) D, ↑ ionized calcium > 5.4 mg/dL (1.35 mmol/L) with ↑ parathyroid
hormone, normal or ↑ serum calcium, and ↑ serum phosphorus > 2.6 mg/dL (0.84 mmol/L)
• Vitamin K: ↓ prothrombin time or altered INR
• Niacin: ↑ N’methyl-nicotinamide excretion > 7.3 µmol/day
• Vitamin B-6: ↑ plasma pryrdoxal 5’phosphate > 15.7 ng/mL (94 nmol/L)
• Vitamin A: ↑ serum retinol concentration > 60 µg/dL (2.09 µmol/L)
• Pantothenic acid: ↑ plasma
• Biotin: ↑ serum
Vitamin profile (1.13)
• Vitamin A, serum or plasma retinol
• Vitamin C, plasma or serum
• Vitamin D, 25-hydroxy
• Vitamin E, plasma alpha-tocopherol
• Thiamin, activity coefficient for erythrocyte transketolase activity
• Riboflavin, activity coefficient for erythrocyte glutathione reductase activity
• Niacin, urinary N’methyl-nicotinamide concentration
• Vitamin B6, plasma or serum pyridoxal 5’phosphate concentration
• Pantothenic acid, urinary pantothenate excretion, plasma
• Biotin, urinary 3-hydroxyisovaleric acid excretion
• Biotin, lymphocyte propionyl-CoA carboxylase in pregnancy, serum
• Biotinidase
• Protein induced by vitamin K absence or antagonist II
INADEQUATE MINERAL INTAKE (specify)

• Calcium: bone mineral content (BMC) ↓ the young adult mean.

Hypocalciuria, serum 25(OH)D < 32 ng/mL
• ↓ Phosphorus, < 2.6 mg/dL (0.84 mmol/L)
• ↓ Ferritin in patient/client with a ↓ Mean Corpuscular Volume (MCV)
• ↓ Zinc, plasma
• ↓ Magnesium, <1.8 mg/dL (0.7 mmol/L)
• Iron: ↓ hemoglobin < 13 g/L (2 mmol/L) (males); < 12 g/L (1.86 mmol/L) (females)
• Iodine: ↓ urinary excretion < 100 µg/L (788 nmol/L)
• Copper: ↓ serum copper < 64 µg/dL (10 µmol/L)
• ↓ Selenium, plasma
• ↓ Fluoride, plasma
• ↓ Manganese, serum
• ↓ Molybdenum, serum
• ↓ Boron, serum or plasma
EXCESSIVE MINERAL INTAKE (specify)

Changes in appropriate laboratory values, such as:

• ↑ TSH (excessive iodine intake)
• ↓ HDL (excessive zinc intake)
• ↑ Serum ferritin and transferrin saturation (iron overload
or excessive intake)
• ↑ Phosphorus, serum
• ↑ Magnesium, serum
• ↓ Copper, serum (excessive zinc intake)
• ↑ Fluoride, plasma
• ↑ Selenium, serum
• ↑ Manganese, serum
• ↑ Molybdenum, serum
• ↑ Boron, serum or plasma
Mineral profile (1.9) Electrolyte and renal profile (1.2) Nutritional anemia profile (1.10)
• Copper, serum or plasma • Magnesium • Hemoglobin
• Iodine, urinary excretion • Calcium, serum • Hematocrit
• Zinc, serum or plasma • Calcium, ionized • Mean corpuscular volume
• Boron, serum or plasma • Phosphorus • Red blood cell folate
• Chromium, serum or urinary • Red cell distribution width
• Fluoride, plasma • B12, serum
• Manganese, urinary, blood, plasma • Methylmalonic acid, serum
• Molybdenum, serum • Folate, serum
• Selenium, serum or urinary • Homocysteine, serum
• Ferritin, serum
• Iron, serum
• Total iron-binding capacity
• Transferrin saturation
 ALTERED GI FUNCTION
Changes in digestion, absorption, or elimination

• Abnormal digestive enzyme and fecal studies

• Abnormal hydrogen breath test, d-xylose test, stool culture, and gastric emptying and/or bowel transit time
• Endoscopic or colonoscopy examination, abdominal scan, biopsy results
• Abnormal pH, sphincter, motility, morphology or reflux studies
• Abnormal anemia profile
• Abnormal vitamin, mineral, fatty acid, trace element, and PTH results
• Abnormal tissue transglutaminase antibodies (IgA/IgG)
 IMPAIRED NUTRIENT UTILIZATION
Changes in ability to metabolize nutrients and bioactive substances

• Abnormal protein, fatty acid or carbohydrate metabolism profile tests

• Abnormal liver function tests
• Abnormal anemia profile
• Abnormal pituitary hormones (growth hormone [GH], adrenocorticotropic hormone [ACTH],
luteinizing hormone [LH] and follicle-stimulating hormone [FSH])
• Vitamin and/or mineral deficiency
• Hypoglycemia, hyperglycemia
• Abnormal PTH
• Positive result for urine porphyrins
ALTERED NUTRITION-RELATED LABORATORY VALUES
Changes in lab values due to body composition, medications, body system changes or genetics, or
changes in ability to eliminate byproducts of digestive and metabolic processes.

• ↑ AST, ALT, T. bili, serum ammonia (liver disorders)

• ↑ BUN, ↑ Cr, ↑ K, ↑ phosphorus, ↓ glomerular filtration rate (GFR) (kidney disorders)
• Altered pO2 and pCO2 (pulmonary disorders)
• ↑ Serum lipids
• ↑ Plasma glucose and/or HgbA1c levels
• Inadequate blood glucose control
• ↑ Urine microalbumin
• Abnormal protein, fatty acid or carbohydrate metabolism profile
• Other findings of acute or chronic disorders that are abnormal and of nutritional origin or consequence
DISORDERED EATING PATTERN

• ↓ Cholesterol, abnormal lipid profiles, hypoglycemia, hypokalemia (anorexia nervosa [AN])

• Hypokalemia and hypochloremic alkalosis (bulimia nervosa [BN])
• Hyponatremia, hypothyroid, elevated BUN (AN)
• Urine positive for ketones (AN)
Acid-base balance (1.1
• Arterial pH
• Arterial bicarbonate
• Partial pressure of carbon dioxide in arterial blood (PaCO2)
• Partial pressure of oxygen in arterial blood (PaO2)
• Venous pH
• Venous bicarbonate

Electrolyte and renal profile (1.2)

• BUN
• Creatinine
• BUN:creatinine ratio
• Glomerular filtration rate
• Sodium
• Chloride
• Potassium
• Magnesium
• Calcium, serum
• Calcium, ionized
• Phosphorus
• Serum osmolality
• Parathyroid hormone
Essential fatty acid profile (1.3)
• Triene:Tetraene ratio
Gastrointestinal profile (1.4)
• Alkaline phosphatase
• Alanine aminotransferase (ALT)
• Aspartate aminotransferase (AST)
• Gamma glutamyl transferase (GGT)
• Gastric residual volume
• Bilirubin, total
• Ammonia, serum
• Toxicology report, including alcohol
• Prothrombin time (PT)
• Partial thromboplastin time (PTT)
• INR ratio
• Amylase
• Lipase
• Fecal fat, 24 hour
• Fecal fat, 72 hour
• Fecal fat, qualitative
• Fecal calprotectin
• Fecal lactoferrin
• Pancreatic elastase • Barium swallow
• 5'nucleotidase • Esophagogastroduodenoscopy
• D-xylose • Endoscopic retrograde cholangio-
• Lactulose hydrogen breath test pancreatography (ERCP)
• Lactose hydrogen breath test • Capsule endoscopy
• Fructose hydrogen breath test • Esophageal manometry
• Glucose hydrogen breath test • Esophageal pH test
• Urea hydrogen breath test • Gastroesophageal reflux monitoring
• Intestinal biopsy • Gastrointestinal sphincter monitoring
• Stool culture • Urate
• Gastric emptying time
• Small bowel transit time
• Abdominal X-ray
• Abdominal CT (computed tomography)
• Abdominal ultrasound
• Endoscopic ultrasound
• Pelvic CT (computed tomography)
• Modified barium swallow
Glucose/endocrine profile (1.5)
• Glucose, fasting
• Glucose, casual
• Hemoglobin A1c (HgbA1c)
• Preprandial capillary plasma glucose
• Peak postprandial capillary plasma glucose
• Glucose tolerance test
• Cortisol level
• IGF-binding protein
• Thyroid stimulating hormone
• Thyroxine test
• Triiodothyronine
• Adrenocorticotropic hormone
• Follicle stimulating hormone
• Growth hormone
• Luteinizing hormone

Inflammatory profile (1.6)

• C-reactive protein
Lipid profile (1.7)
• Cholesterol, serum
• Cholesterol, HDL
• Cholesterol, LDL
• Cholesterol, non-HDL
• Total cholesterol:HDL cholesterol ratio
• LDL:HDL ratio
• Triglycerides, serum

Metabolic rate profile (1.8)

• Resting metabolic rate, measured
• Respiratory quotient, measured

Mineral profile (1.9)

• Copper, serum or plasma
• Iodine, urinary excretion
• Zinc, serum or plasma
• Boron, serum or plasma
• Chromium, serum or urinary
• Fluoride, plasma
• Manganese, urinary, blood, plasma
• Molybdenum, serum
• Selenium, serum or urinary
Nutritional anemia profile (1.10)
• Hemoglobin
• Hematocrit
• Mean corpuscular volume
• Red blood cell folate
• Red cell distribution width
• B12, serum
• Methylmalonic acid, serum
• Folate, serum
• Homocysteine, serum
• Ferritin, serum
• Iron, serum
• Total iron-binding capacity
• Transferrin saturation
Protein profile (1.11)
• Albumin • Cysteine • Adipate
• Prealbumin • Methionine • 2-hydroxyglutarate
• Transferrin • Isoleucine • 3-hydroxyphenylacetate
• Phenylalanine, plasma • Leucine • 2-ketoglutarate
• Tyrosine, plasma • Ornithine • Citrate
• Amino acid panel • Lysine • Propionate
• Phenylalanine, dried blood spot • Histidine • Methylcitrate
• Tyrosine, dried blood spot • Arginine • 3-hydroxy propionate
• Phenylalanine:tyrosine • Lysine:arginine ratio • ß-hydroxy butyrate
• Hydroxyproline • Tryptophan • Creatine kinase
• Threonine • Plasma organic acid panel • Troponin I. cardiac
• Serine • Organic acids/creatinine • Troponin T. cardiac
• Asparagine • 3-hydroxybutyrate • B-type natriuretic peptide
• Glutamate • 3-hydroxyisovalerate • Succinylacetone
• Glutamine • Acetoacetate • Total serum immunoglobulin A
• Proline • Ethylmalonate • Tissue transglutaminase antibodies (IgA)
• Glycine • Succinate • Tissue transglutaminase antibodies (IgG)
• Alanine • Fumarate • Deamidated gliadin peptide antibodies (IgG)
• Citrulline • Glutarate • Endomysial antibodies
• Valine • 3-methylglutarate • Carbohydrate-deficient transferrin
Urine profile (1.12)
• Urine color • Urine acylglycines/creatinine
• Urine osmolality • Urine argininosuccinate
• Urine specific gravity • Urine succinylacetone/creatinine
• Urine volume • Urine orotate
• Urine calcium, 24 hour • Urine orotate/creatinine
• Urine d-xylose • Urine 2-hydroxyisovalerate
• Urine glucose • Urine 2-oxoisovalerate
• Urine ketones • Urine galactitol
• Urine sodium • Urine reducing substances
• Urine microalbumin • Urine porphyrins
• Urine protein, random
• Urine protein, 24 hour
• Urine uric acid, random
• Urine uric acid, 24 hour
• Urine organic acid panel
• Urine glutarate
• Urine methylmalonate
Vitamin profile (1.13)
• Vitamin A, serum or plasma retinol
• Vitamin C, plasma or serum
• Vitamin D, 25-hydroxy
• Vitamin E, plasma alpha-tocopherol
• Thiamin, activity coefficient for erythrocyte transketolase activity
• Riboflavin, activity coefficient for erythrocyte glutathione reductase activity
• Niacin, urinary N’methyl-nicotinamide concentration
• Vitamin B6, plasma or serum pyridoxal 5’phosphate concentration
• Pantothenic acid, urinary pantothenate excretion, plasma
• Biotin, urinary 3-hydroxyisovaleric acid excretion
• Biotin, lymphocyte propionyl-CoA carboxylase in pregnancy, serum
• Biotinidase
• Protein induced by vitamin K absence or antagonist II
Carbohydrate metabolism profile (1.14)
• Galactose-1-phosphate in red blood cell
• Galactose-1-phosphate uridyl transferase
• Fructose
• Lactate
• Pyruvate
• Lactate:pyruvate ratio

Fatty acid profile (1.15)

• Acylcarnitine panel
• Acylcarnitine, plasma
• Free carnitine
• Total carnitine
• Free carnitine:total carnitine
• Fatty acid panel mitochondrial C8-C18
• Fatty acid panel essential C12-C22
• Fatty acid panel peroxisomal C22-C26
• MCAD enzyme assay in fibroblasts or other tissues
• Fatty acid ß-oxidation in fibroblasts