C1329821

 A

Based on the provided clinical details, the  girl presents with features suggestive of a suspected metabolic disorder. The key findings include:

• Faltering growth + vomiting

• Hepatomegaly & raised liver enzymes (ALT 254, GGT 519, increased bile acids)

• High cholesterol & high bile acids

• Ketotic hypoglycemia (glucose 1.7)

• High lactate (5.7)

• Multiple gallstones

• Doll-like facies

The differential diagnosis (DDx) includes:

1. Inborn Errors of Metabolism (IEM):

• Glycogen Storage Disorders (GSD):

  • GSD Type I (Von Gierke’s Disease) – Hypoglycemia, hepatomegaly, high lactate, high triglycerides, doll-like facies.

  • GSD Type III (Cori’s/Forbes Disease) – Hypoglycemia, hepatomegaly, abnormal liver enzymes.

• Mitochondrial Disorders:

  • Mitochondrial hepatopathy – Lactic acidosis, hypoglycemia, liver dysfunction.

  • Mitochondrial DNA depletion syndrome (MDS)

• Galactosemia:

  • Suspected due to pending Gal-1-PUT testing

  • Presents with hepatomegaly, hypoglycemia, vomiting, and jaundice.

• Disorders of Bile Acid Synthesis:

  • Progressive familial intrahepatic cholestasis (PFIC) – Hepatomegaly, cholestasis, raised bile acids.

2. Metabolic Cholestatic Liver Diseases:

• Alpha-1 Antitrypsin Deficiency (pending Pi typing)

• Cholestatic Liver Disease secondary to metabolic syndrome

3. Endocrine Disorders:

• Adrenal Insufficiency:

  • Cortisol levels pending; adrenal dysfunction can cause vomiting, hypoglycemia.

4. Other Considerations:

• Storage Disorders: Lysosomal storage diseases (e.g., Niemann-Pick, Gaucher)

• Congenital Disorders of Glycosylation

Next Steps:

• Await whole-genome sequencing (R14)

• Further metabolic screening (Urine GAGs, amino acids, liver autoantibodies, copper studies)

• Genetic testing (GSD, mitochondrial, bile acid disorders)

This case likely represents a metabolic hepatopathy with features pointing towards GSD, mitochondrial, or bile acid disorders. Let me know if you need more details on specific differentials!