Most of our Pediatrician friends would shun TWO TOPICS in our Speciality of Child Care. They are :
1. GENETICS
2. IEM = INBORN ERRORS OF METABOLISM.
Let’s revisit the essential basics of IEM , because such a situation would be first encountered by one of us, at the periphery. We may not treat such cases, buy timely referral would add to our credentials and bring us some honour of having guided the victims of such rare disorders.
1. When to suspect IEM :
The following situations should raise our antenna to suspect IEM
Past History of unexplained NEONATAL DEATH Any neonate deteriorating after a period of normalcy. Recurrent Vomiting Unexplained Encephalopathy in infants Seizures in neonates and infants Developmental Milestones DELAYED Failure to thrive – severe type Parental Consanguinity Aversion to Protein in older children
BASIC INVESTIGATIONS : Let’s memorise this
MNEMONIC – named GALAK , which is the first line of Lab testing .
GALAK STANDS FOR FIVE PARAMETERS
G # Glucose
A # Ammonia
L # Lactate
A # ABG
K # KETONURIA
Other Basic Investigations are :
RENAL FUNCTION TESTS : BUN + Creatinine LIVER FUNCTION TESTS Serum Electrolytes Coagulation Profile Complete Blood Count CBC Serum URIC ACID Thyroid Function Tests
Advanced Work – up :
TMS = Tandem Mass Spectroscopy and Genetic Analysis ( Molecular Confirmation of Stored DNA) is done by Gene Sequencing ( Sanger / Next Generation)
Benefits of Genetic Analysis :
1. Helps the Index child
2. Helps Genetic Counselling
3. Helps Prenatal Diagnosis in next pregnancy.
With this basic information on IEM, the BLOG reader is now expected to read literature on the subject and help children with the following common IEM entities :
1. Urea Cycle Disorders.
2. Organic Acidemias
3. Fatty Acid Oxidation defects
4. Phenylketonuria
5. Pyruvate Carboxylase Deficiencies
6. Maple syrup urine disease.
7. Storage Disorders like Glycogen Storage Disease. etc.
PLUS many OTHERS
Dr. Dhananjay Shah
Ped. Practice of 40 years
FELLOW IAP 2006
Crusader @ IAP
Worthy Candidate for IAP PRESIDENT ELECT 2022
Call: 9898003607
Call: 9825478060