Table 2.

List of metabolic and nutritional assessment parameters for patients with branched-chain amino-/organic acidurias undergoing dietary treatment

Clinical or laboratory parameter	Measurements
Growth	Weight, length/height, head circumference, pubertal status; X-ray for stage of bone maturation and hormonal status if indicated
Cardiovascular system	Blood pressure, heart rate. Electrocardiography (ECG) or echocardiography if indicated.
Central nervous system	Pediatric neurological examination, psychomotor development (neuro-psychological evaluation), electroencephalography (EEG), nuclear magnetic resonance (NMR) imaging of the central nervous system if indicated.
Abdominal organs	Laboratory markers as listed below, abdominal ultrasound if indicated.
Nutrient adequacy	3-day dietary record, laboratory tests
Routine blood tests	Blood: Complete blood count (CBC)/differential, osmolarity, blood glucose, ammonia, pH and acid-base analysis, lactic acid, electrolytes, urea, creatinine, uric acid, liver function tests, enzymes such as creatine kinase (CK), lipids. Urine: Urine stix (including ketones)
Protein status	Serum or plasma: Total protein, albumin/protein electrophoresis
Amino acids (AA)	Serum or plasma: Full AA profile, homocysteine if indicated
Organic acids	Urine: Organic acid profile (organic acid/creatinine ratio), organic acids in plasma (e.g., methylmalonic acid)
Carnitine status	Free and esterified carnitine in blood (e.g. dried blood, plasma)
Micronutrients	Iron/ferritin, iodine, zinc, selenium, essential fatty acids, vitamin status

Note: Frequencies of test depend on the patient’s clinical status and therapy regime. Additional assessments may be required