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 âž” 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 |