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IEM in Critically Ill Newborns ( n = 108 )

1.Carbohydrate Metabolism Defect -
a. Galactosemia - 7 ( 6.48 % )

2. Aminoacidopathies -
a. M.S.U.D. - 6 ( 5.56 % )
b. Non Ketotic Hyperglycinemia - 2 ( 1.85 % )
c. Tyrosinemia Type I - 1 ( 0.93 % )
d. Histidinemia - 2 ( 1.85 % )


3. Urea Cycle Defect :-
a. OTC deficiency - 2 ( 1.85 % )
b. Argininemia - 1 ( 0.93 % )

4. Organic Acidemia :-
a. Biotinidase deficiency - 14 ( 12.96 % )
b. Propionic Acidemia - 3 ( 2.78 % )

5. Renal Tubular Acidosis - 2 ( 1.85 % )

6. Endocrinal Disorders :-
a. Congenital Adrenal Hyperplasia - 4 ( 3.70 % )
b. Hypothyroidism - 1 ( 0.93 % )
c. Neonatal Diabetes Mellitus - 1 ( 0.93 % )
d. Ambiguous Genitalia - 1 ( 0.93 % )

7. Fatty Acid Oxcidation Defect - 4 ( 3.70 % )

8. Metabolic Liver Disorder ( Alfa 1 Antitrypsin def. ) - 1 - ( 0.93 % )

9. S.I.D.S. - 2 ( 1.85 % )

Data till 15th Aug. 2000
Toatal number of patients n = 407

1. Critically ill newborns - 108 ( 26.53 % )
2. Mental Retardation without convulsions - 100 ( 24.57 % )
3. Mental Retardation with convulsions - 53 ( 13.02 % )
4. Only epiplepsy without mental retardation - 1 ( 0.24 % )
5. Only Learning Disorder ( ADD ) - 1 ( 0.24 % )
6. Metabolic Liver Diseases - 13 ( 3.19 % )
7. Recurrent Abdominal Pain ( ? Porphyria ) 2 ( 0.5 % )
8. Bad Obstetric History - 91 ( 22.35 % )
9. Children with Dysmorphic features for Chromosomal analysis - 13 ( 3.19 % )
10.Precocious puberty 6 ( 1.47 % )
11.Short Stature of Genetic origin - 4 ( 0.98 % )
12.Thalassemia etc. 3 ( 0.75 % )
13.Skeletal and joint disorders - 9 ( 2.25 % )