A 1.5 month old male infant presented with jaundice, abdominal distension, and fever. Liver function tests showed acute liver failure. Initial infections were ruled out. Urine tests found high galactose levels and low galactose-1-phosphate uridyl transferase enzyme activity, diagnosing galactosemia as the cause of acute liver failure. Despite treatment, the infant's condition deteriorated and he succumbed to complications on the ninth day of admission.

1. INFANT
WITH
ACUTE LIVER FAILURE

2. 1.5 months, male, born of non consanguineous
marriage, 1st by birth order, birth weight 2.9kg,
with h/o:
•Yellowish discoloration of eyes and skin since
3days
•Abdominal distension with increased frequency
of stools since 2days
•Fever since 1day

3. ON ENQUIRY:
Child apparently alright 3 days back when he
developed;
• Yellowish discoloration of skin and eyes with
high colored urine
• No clay colored stools.
• Abdominal distension progressively increasing
leading to respiratory distress.
• Stool frequency 9-12 episodes of green
stools/day

4. • One episode of malena.
• H/o fever, low to moderate grade for one day
• No h/o prolonged neonatal jaundice,
• No h/o seizures,
• No h/o refusal to feed or decreased urinary
output.
Birth h/o: Uneventful
Development h/o : Normal
Family & Past history: Not significant

5. GENERAL EXAMINATION
Drowsy, afebrile;
HR=124/min, pulses well felt;
RR=58/min, subcostal retractions+;
SPO2=98 on room air
BP= 74/46 mmHg, HGT -30 mg/dl
Anthropometry: Weight -4.2 kg,10th centile,
Length -52cms, 5th centile.
Icterus+++,Pallor+,
No dysmorphic features.
No cataracts.
No skin changes.

6. SYSTEMIC EXAMINATION
P/A:
• Distended, dilated abdominal veins, umbilical
hernia+,
• Liver 2cm, span 8 cm, firm, sharp margins,
nontender.
• Spleen 3 cm,firm.
• Fluid thrill +
RS: Air entry b/l equal
CVS: S1S2 normal.
CNS : Drowsy,
tone, reflexes normal.

7. IMPRESSION
Hyperacute liver failure unlikely due to infection
alone;
D/D:
• In born error of metabolism precipitated by an
infection.
• TORCH Infection – but no h/o antenatal illness or
prematurity or IUGR, Normal at birth, until 3
days before admission

8. INITIAL MANAGEMENT
• O2 by hood
• I.V Fluids to maintain Euglycemia
• Blood Cultures collected
• 1st dose antibiotics given
• Inj Vit K i.v

9. Day1 Day 2 Day 3 Day 4 Day 5 Day 6
Hb(g/dL) 6.8 5.5 7.6 5.1 7.3 7.0
TLC(/cumm 22,200 26,500 14,800 3,600 6,500 5,900
)
Plt(/cumm) 2.4L 2.18 L 1.3 L 40,000 38,000 25,000
s.Bili 38/14 32/23 24/6.1 23/4.5 17.2/5.7 17.6/3.6
T/D(mg/dl)
SGOT(IU/L) 306 218 170 94 91 105
SGPT(IU/L) 94 144 100 44 42 40
s.Alb(g/dl) 3.2 2.4 2.6 2.7
PT/PTT 78.7/>2 mins 52.5/>2mins
RBS 30 131 28 142 60 62
ABG 7.46/13.5/18. 7.5/
(pH/Hco3/ 6 14.5/
pCO2) Met Acidosis 18.1
+Resp Alk
NH3 108 188 134
(micromol/l)
LDH(IU/L) 2263
U.Red subs Trace 2+ 3+

10. FURTHER MANAGEMENT
For Fulminant hepatic failure
Started i.v NAC, i.v L-ornithine, L-aspartate,
GDR(glucose delivery rate) increased,
PRBC Transfusion, FFP Transfusion.
Sensorium deteriorated with worsening LFTs,
Hypoglycemia inspite of increasing GDR.
Shifted to IPCU

11. Day1 Day 2 Day 3 Day 4 Day 5 Day 6
Hb(g/dL) 6.8 5.5 7.6 5.1 7.3 7.0
TLC(/cumm 22,200 26,500 14,800 3,600 6,500 5,900
)
Plt(/cumm) 2.4L 2.18 L 1.3 L 40,000 38,000 25,000
s.Bili 38/14 32/23 24/6.1 23/4.5 17.2/5.7 17.6/3.6
T/D(mg/dl)
SGOT(IU/L) 306 218 170 94 91 105
SGPT(IU/L) 94 144 100 44 42 40
s.Alb(g/dl) 3.2 2.4 2.6 2.7
PT/PTT 78.7/>2 mins 52.5/>2mins
RBS 30 131 28 142 60 62
ABG 7.46/13.5/18. 7.5/
(pH/Hco3/ 6 14.5/
pCO2) Met Acidosis 18.1
+Resp Alk
NH3 108 188 134
(micromol/l)
LDH(IU/L) 2263
U.Red subs Trace 2+ 3+

12. INVESTIGATIONS FOR
ETIOLOGICAL DIAGNOSIS
•SEPSIS CRP Negative,Blood Cultures
negative.
•TORCH Titres  Negative
•HLH(Hemophagocytic Lympho
Histiocytosis )
normal ferritin, bone marrow- no
hemophagocytes.

13. Ctd..
• IEM:
TYROSINEMIA  AFP 400ng/ml (normal)
GALACTOSEMIA 
Urine Thin Layer Chromatography galactose+,
Total Galactose High,
GALT Enzyme level Low.

14. On 9th day—
Child developed increasing respiratory distress,
Persistent hypoglycemia on GDR of 14,
Intubated & ventilated..
Child succumbed to his disease.

15. CONCLUSION
1.5 mnths old infant with
• Hyperacute liver failure
• Direct hyperbilirubinemia
• Persistent hypoglycemia inspite of high GDR.
• Metabolic Acidosis
• Urine Thin Layer Chromatography - Galactose+,
• Total Galactose High,
• GALT Enzyme level Low.
• Diagnosed as GALACTOSEMIA