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Table 2 Data of the study group

From: Inherited metabolic disorders in a cohort of Egyptian children

Disorder

Patients, no.

Gender, M/F

Family, no.

+ Family His. (similar cases)

Sibl. death

Positive cons.

Range of the ages at diagnosis (months)

Organic acidemia 200/320

MMA

48

32/16

48

16

20

32

11–32 months

GA

40

24/16

8

6

3

6

3–122 months

IVA

40

32/8

8

2

2

6

12–156 months

PA

32

8/24

8

2

1

6

2–17months

OA

24

16/8

4

2

0

4

3–16months

MCG

16

12/4

4

0

3

2

6–15months

Amino acido-pathies 80/320

MSUD

32

16/16

24

8

4

16

15 days to 41 months

PKU

24

16/8

16

16

8

16

4–96 months

Homocystinuria

16

8/8

16

0

4

8

12–51 months

Non-ketotic hyper-glycinemia

8

8/0

8

0

4

0

2–10 months

FAO defect 24/320

 

24

16/8

24

0

12

16

5–24 months

LA 16/320

 

16

8/8

16

0

8

8

14–51 months

  1. Age at diagnosis was calculated by number of months
  2. MMA methylmalonicacidemia, GA glutaricacidemia, IVA isovalericacidemia, PA propionic acidemia, OA oroticacidemia, MCG methylcrotonylglycinuria, PKU phenyl ketonurea, MSUD maple syrup urine disease, FAOD fatty acid oxidation defect, LA lactic acidosis