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Clinical Features

- FTT, vomiting, diarrhea

-patients present with hypoglycemia and encephalopathy shortly after birth, followed by jaundice, ascites, hepatomegaly and liver failure

- +/- hemolytic anemia, cataracts, renal dysfunction

MANAGEMENT/TREATMENT

- elimination of dietary galactose

-Switch infants to soy or hydrolyzed formula

-Older children and adults should avoid products that contain milk

-Certain legumes (garbanzo and black beans) contain high galactose and should be avoided

-Calcium and Vit D supplementation

-Annual ophtho. and neurodev. exams are recommended

Definitive diagnosis requires tissue enzyme assay

Type II (Pompe Disease)

- acid-α-glucosidase deficiency

- mainly affects heart and muscle

- presents with cardiorespiratory failure and/or cardiomyopathy

Type III (Forbes Disease)

- deficient debranching enzymes

- Liver, muscle

- hepatomegaly, fasting hypoglycemia, hyperlipidemia, progressive myopathy

Type IV (Andersen's Disease)

- defect in α-1,4-glucan 6 glucosyl-transferase (branching enzyme)

- Liver

- HYPOGLYCEMIA IS RARE

- liver disease and cardiomyopathy are common

GSD Type I

- continuous glucose source (small frequent feeds in infants, continuous or overnight enteric tube feeds, constarch

- allopurinol and lipid lowering agents are rarely needed

- recombinant G-CSF for neutropenia

GSD Type III

- continuous glucose source

- annual AFP and ultrasound due to increased risk of hepatocellular adenomas

- annual echo and EKG for patients with cardiomyopathy

GSD Type IV

- Liver transplantation is the only effective therapeutic modality for these patients

Shortly after birth, a 3,500 g term newborn is found to be jittery and to have a high-pitched cry.

Physical examination reveals tachypnea and a liver edge that is palpable several centimeters below

the umbilicus. Blood glucose concentration is 14 mg/dL. Among the following, the MOST likely cause

of the hypoglycemia in this newborn is:

A. Galactokinase deficiency

B. Glycogen storage disease

C. Insulinoma

D. Maternal diabetes mellitus

E. Prolonged maternal labor

Type Ia (Von Gierke Disease)

- defect in Glucose-6-phosphatase

- affects mainly liver and kidney

- "Classic form of GSD"

- hypoglycemia and acidosis 3-4 hrs post meal; hepatomegaly with protuberant abdomen; elevated TGs; Doll Facies and xanthomas; impaired platelet function/bleeding; elevated uric acid

Type Ib and Ic

- Glucose - 6 - phosphatase related transport

- mainly affects liver

- Ib: neutropenia and recurrent infections associated with IBD

- Ic: impaired insulin secretion

Common Features of Disorders of CHO Metabolism

Glycogen Storage Diseases

  • Neonates & Infants may present with hypoglycemia, vomitting, diarrhea, poor feeding, poor weight gain, seizures, hepatomegaly and liver failure
  • Older children may present with hepatomegaly, abnormal feeding behaviors, poor weight gain and growth, and developmental delay
  • Caused by deficiencies of enzymes in the pathways of glycogen metabolism
  • 10 different types of GSD have been identified
  • Types I, III, IV, and VI primarily affecting the liver

Diagnosis is via liver biopsy for Type I; and molecular genetics for Types I through V

Most often, patients present after an acute illness, systemic stressor or prolonged period of fasting

Managment/Treatment

Carbohydrate Metabolism

Metabolic Liver Diseases -

Disorders of Carbohydrate Metabolism

  • Glucose Homeostasis - Central role of the liver
  • Gluconeogensis
  • Glycogen breakdown
  • Dietary CHOs include glucose, galactose, fructose
  • Glucose typically stored as glycogen (branched polymer)

Hereditary Fructose Intolerance

  • Deficiency of Fructose 1,6-bisphosphonate aldolase (aldolase B)
  • 1 in 20k live births, autosomal recessive

Disorders of Galactose Metabolism

Galactosemia

Clinical Features

Management/Treatment

-complete avoidance of fructose and sucrose

-in acutely ill patients, correct hypoglycemia, metabolic acidosis and coagulopathy

  • deficiency of galactose 1-phosphate uridyl transferase (GALT)
  • 1 in 30-50k live births
  • Autosomal-recessive
  • Symptoms develop once fructose is introduced into the diet ie sucrose based formula
  • most common symptoms include poor feeding, vomiting, diarrhea and abdominal pain
  • chronic exposure or large fructose load > seizures, FTT, liver failure, kidney dysfunction

Fructose 1,6-Bisphosphatase Deficiency

- AR condition resulting in impaired gluconeogenesis

- F > M (1.5:1)

- symptoms develop when glycogen stores are low (newborn period or prolonged fasting)

- 50% patients develop symptoms after birth

- definitive diagnosis is made via liver biopsy

- treatment is same as for HFI and avoiding prolonged periods of fasting

DIAGNOSIS

- NBS

- Positive urinary reducing substances without glucosuria

- decrease GALT activity in RBCs

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