Table 3 Clinical monitoring

Summary of routine evaluations

 Blood (or urine) succinylacetone

 Blood NTBC concentration

After initiation of treatment

 Plasma amino acids (phenylalanine, tyrosine)

 CBC: hemoglobin, hematocrit, WBC, platelet count

 PT/PTT

 CMP

 AFP

 Urine: see renal evaluation below

Liver evaluation

 Serum AFP concentration

 PT

 PTT

 ALT/AST/GGT

One of either ALT or AST is good; GGT if patient is symptomatic

 Bilirubin including direct

 Albumin

 Alkaline phosphatase

For rickets; if elevated, consider wrist radiography, consider vitamin D level

 Imaging: ultrasound with periodic MRI or CT(with contrast)

Modality dependent on individual clinical circumstances (see text)

Renal evaluation

 Ultrasound

 Blood chemistries: bicarbonate, BUN, creatinine

 Blood calcium and phosphate

 Urine analysis

 Urine amino acids

 Urine calcium, phosphate, creatinine (TRP)

 Urine B2-microglobulin

Other evaluation

 Nutrition assessment

See text for nutrition

 Developmental evaluation/neuropsychology assessment

By school age or as needed

 Ophthalmology: Slit lamp examination

When symptomatic or at increased risk