Mahesh S.Kore*, Sushma M.Kore**, Manoj S.Nikam***
Shree Hospita, Nipani, Dist. Belgaum, Karnataka. firstname.lastname@example.org *, Shree Hospita, Nipani, Dist. Belgaum, Karnataka. email@example.com **, Shree Hospita, Nipani, Dist. Belgaum, Karnataka. firstname.lastname@example.org ***
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|
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
|Neonatal / Perinatal (0 - 28d)
|Infants (28d - 1 year)
|Children (1 - 2 year)
|Children (2 - 5 year)
|> 5 years
|| 12.90% |
B) Sex ratio
C) Profile of Metabolic diseases
||Fructose-1,6 diphosphatase deficiency
||Glycogen storage disorder
||Multiple carboxylase deficiency
||Tay sachs disease
||Methyl malonic acidemia
|| 31 |
|No follow up
|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:
Urine sugar by
Benedict's method detects all sugars
Dextrose stix detects only glucose
Arterial blood gas
Serum Lactate: These simple tests lead us to diagnose a case of IEM
- In cases of Galactosemia
avoiding galactose-containing food mainly milk can save a patient's life.
- In case of Fructose - 1,6 diphosphatase deficiency
avoiding fructose containing food such as sugar and jaggery can eliminate hypoglycemic episodes and convulsions.
- In case of Ketotic hypoglycemia patient's repeated feeding and avoiding fasting more than 8 hours has help to eliminate hypoglycemia.
- 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 : http://www.pediatriconcall.com/fordoctor/ Conference_abstracts/report.aspx?reportid=433|