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Table 2 Clinical history of patients with hereditary metabolic disorders

From: Pancreatic involvement in patients with inborn errors of metabolism

 

Case 1

Case 2

Case 3

Case 4

Case 5

Case 6

Underlying disease

MMA

MMA

PPA

PPA

FAO

Hyperornithinemia

Age/Sex

20 y/M

15 y/M

14 y/M

10 y/M

15 y/M

35 y/M

Birth history

37 wks, 2.7 kg, C/sec

GA 37 wks, 2.47 kg, C/sec

GA 36 wks, 3.2 kg, C/sec

Full term, 3.7 kg, NSVD

Full term, NSVD

Full term, 3.73 kg, NSVD

Age of diagnosis

Perinatal period

Perinatal period

Perinatal period

Perinatal period

40 m

7 y

NH3 (μg/dL)

500

 > 1000

400

1200

300

Normal

Management

Special formula (Propimex)

Low-protein diet

L-carnitine supplement

Low-protein diet

Special formula (MPA)

Freq. feeding

Raw corn starch

Insulin

Low-protein diet