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Table 12 Metabolic follow-up, monitoring of diet and nutritional status, and long term complications

From: Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Assessment Frequency
1. Metabolic follow-up
NH3, blood gases, lactate Each clinic visit
Quantitative plasma amino acids (3-4 h fasting) Every 3-6 months
MMA plasma and urine Every 3-6 months
Free carnitine plasma (or dried blood spots) Every 6-12 months
2. Monitoring of diet and nutritional status
Diet history Each clinic visit
Growth (weight, length/height, BMI) Each clinic visit
Clinical examination e.g. skin, hair Each clinic visit
Albumin, pre-albumin Every 6 months
Bone health (calcium, phosphorus, alkaline phosphatase, magnesium, parathyroid hormone, 25-OH vitamin D) Annually, more frequently in case of chronic kidney disease
FBC, zinc, selenium, ferritin, folic acid, vitamin B12 Annually
3. Monitoring of long term complications
Neurological examination with detailed history of developmental milestones Each clinic visit
Kidney function (glomerular and tubular function)* (serum creatinine, urea, electrolytes, cystatin C, uric acid, urinary electrolytes and protein loss, GFR) Biochemistry, urine: every 6 mo* GFR*: annually, beginning at 6 y or earlier, if other renal function markers are abnormal
Pancreas (amylase &lipase) Every 6 months
Heart (ECG, echocardiography) Baseline ➔ annually, start at 6 y
Formal developmental/IQ assessment At defined ages
Ophthalmologic assessment Annually after 6 y
EEG, MRI, formal hearing test If clinical suspicion/indication
Dentist/oral care Regularly
  1. *Monitoring of kidney function should be performed every 6 months in MMA; in PA annual monitoring is sufficient and GFR measurement is only indicated if other renal function markers are abnormal.
  2. Grade of recommendation: D.