Mahesh S.Kore*, Sushma M.Kore**, Manoj S.Nikam***
Shree Hospita, Nipani, Dist. Belgaum, Karnataka. *, Shree Hospita, Nipani, Dist. Belgaum, Karnataka. **, Shree Hospita, Nipani, Dist. Belgaum, Karnataka. ***
Inborn error of metabolism is rare disorder hence missed often. Many patients of IEM remain misdiagnosed or undiagnosed. IEM is genetically determined deficiency of specific enzymes, may manifest as life-threatening metabolic disorder due to excessive accumulation of metabolites before enzyme block or deficiency of end products. Prompt treatment can prevent mental retardation and death. Even in a dying neonate, identification of IEM and subsequent counselling can prevent further catastrophe for family.

"When it is there in mind it can be diagnosed at any level". There are 22 targeted diseases for which management and some therapy is possible and few of them can live a near normal life.

Here we are presenting our experience with IEM from "SHREE HOSPITAL", at secondary level in a town place Nipani.
Type of study
Retrospective study

All babies attending OPD or admitted at Shree Hospital Nipani, district Belgaum, a northern place in Karnatak state, between September 1996 to September 2006, whose reports were positive for IEM were included in this study. These patients diagnosis were confirmed by GC/MS reports obtained from a Pediatric Geneticist and MILS international India-Matsumoto Institute of Life science, Japan.

During this study period, total 54,000 OPD patients were examined and records maintained by pediatric software. Reg. no allotted to patient remains same through lifetime. So follow-up visits are entered in same number. Total number of admissions were 1800 to 2200 per financial year.

A) Age of Presentation
Age group Number Percentage
Neonatal / Perinatal (0 - 28d) 09 29.03%
Infants (28d - 1 year) 03 09.67%
Children (1 - 2 year) 08 25.80%
Children (2 - 5 year) 07 22.58%
> 5 years 04 12.90%

B) Sex ratio
Sl Sex Number Percentage
1 Male 20 64.5%
2 Female 11 35.5%

C) Profile of Metabolic diseases
1 Galactosemia 3
2 Fructose-1,6 diphosphatase deficiency 3
3 Non-Ketotic hyperglycinemia 1


Propionic acidemia 1
5 Glutaric aciduria 3
6 Glycogen storage disorder 1
7 Ketotic hypoglycemia 10
8 Multiple carboxylase deficiency 1
9 Biotinidase deficiency  2
10 Mitochondrial disease 1
11 Gaucher's disease 1
12 Tay sachs disease 1
13 4-Hydrxybutyric aciduria 1
14 Isovoleric acidemia    1
15 Methyl malonic acidemia   1
  Total 31

D) Outcome
Living 17 54.83%
Expired 05 16.12%
No follow up 09 29.03%
Most of the IEM cases presented with refusal of feeds, convulsion & shock landing in hypoglycemia. These babies are usually fullterm normal delivery AGA and normal for first three days. They present on the fourth or fifth day after initiation of breast milk. These healthy babies suddenly have meticulous deterioration on fourth to fifth day. Most of these mothers have a bad obstetric history and consanguinous marriage.
So, IEM is rare. But it is there
These cases can be picked-up at secondary level with Basic tests such as:
  1. Blood sugar
  2. Urine sugar by
    Benedict's method detects all sugars
    Dextrose stix detects only glucose
  3. Urine Ketones
  4. Arterial blood gas
  5. Serum Ammonia
  6. Serum Lactate: These simple tests lead us to diagnose a case of IEM
  1. In cases of Galactosemia avoiding galactose-containing food mainly milk can save a patient's life.
  2. In case of Fructose - 1,6 diphosphatase deficiency avoiding fructose containing food such as sugar and jaggery can eliminate hypoglycemic episodes and convulsions.
  3. In case of Ketotic hypoglycemia patient's repeated feeding and avoiding fasting more than 8 hours has help to eliminate hypoglycemia.
  4. In cases of Biotinidase deficiency, supplements of Biotin can be administered. These are some of the specific treatments available.
So, the myths about IEM that, they are not treatable is not much true. These patients can be diagnosed earlier and can lead a near normal life. So, let's diagnose many more IEMs.
How to Cite URL :
S.Kore M, M.Kore S, S.Nikam M.. Available From : Conference_abstracts/report.aspx?reportid=433
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