2. Introduction:
IEM are disorders in which there is a block at some
point in the normal metabolic pathway caused by a
genetic defect of a specific enzyme.
3. IEM are individually rare, but collectively >500
conditions, at an incidence of 1:1000.
Diagnosis is important not only for treatment, but
also for genetic counselling and antenatal
diagnosis in subsequent pregnancies.
Introduction: (Cont’d)
4. Classification of IEM:
OA UCD AA FAO Carbohydrate Mitochondrial
GA OTC PKU MCADD Galactosaemia MELAS
IVA ASA Tyrosinemia CPT1D Fructosaemia MERRF
MSUD Citrullinaemia Homocystinuria LCHCDD Pyruvate DD
5. Metabolic Referrals to CATS: (Jan 19 – Feb 21)
DKA
Metabolic
Diseases
Electrolyte
Disturbances
60%
30%
10%
11. Case 6 days old child
Vomiting for >24 hrs Lethargy
Blood gas:
pH 7.0
PCO2 3
HCO3 8
BE -16
Glu 2.5
Lac 3.5
What will be
your first action?
Seizures
21. ❓ Quick Quiz ❓
🤔 IEM that is commonly associated with
Respiratory alkalosis?
22. Investigations: Second line
Test Disorder
GCMS OA
TMS OA - UCD - FAOD
HPLC OA
L:P High lactate
U. Orotic acid UCD
Enzyme assay Biotinidase - GALT
23. Investigations: Second line (Cont’d)
Test Disorder
MRI MSUD - Zellweger - GA
MRS Mitochondrial
EEG MSUD - NKH
VLCFA Peroxisomal
CSF AA ⬆️ Glycine in NKH
33. Management: Asymptomatic sibling
At birth : Metabolic screen -> Oral D10% feeds
At 24 hrs : Repeat metabolic screen -> Breast feeds
At 48 hrs : Repeat metabolic screen -> Urine OA
Close follow-up for a few months
34. Case 6 days old child
Vomiting for >24 hrs Lethargy
Blood gas:
pH 7.0
PCO2 3
HCO3 8
BE -16
Glu 2.5
Lac 3.5
How would you
manage?
Seizures
36. The most important step in the diagnosis of IEM is
clinical suspicion.
You don’t need to know what the problem is to
make a big difference.
Take-Home Message
⏳ Time = Brain ⏳
The diagnosis can wait..