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GalactosemiaAka: GALT Deficiency

See Also
1. Inborn Errors of Metabolism
2. Inborn Error of Small Molecule Metabolism
Epidemiology
1. Identified in newborn period
Pathophysiology
1. Autosomal recessive trait
2. Galactose-1-Phosphate Uridyl Transferase Deficiency
  1. Most common of 3 genetic defects causing galactosemia
3. Failure to convert galactose to glucose
4. Results in fatty Cirrhosis of the liver
Symptoms
1. Presentation follows milk ingestion after days to weeks
2. Vomiting
3. Diarrhea
4. Dehydration
5. Lethargy
6. Weight loss
Signs
1. Growth Failure or Failure to Thrive
2. Jaundice
3. Hepatomegaly (see Hepatomegaly in Newborns)
4. Splenomegaly
5. Cataracts
6. Mental retardation
7. Hypotonia
Labs
1. Galactosemia
2. Erythrocyte Galactose-1-Phosphate uridyl transferase
  1. Activity diminished
3. Liver Function Tests increased
4. ProTime (INR) may be elevated
5. Urine exam
  1. General Findings
    1. Galactosuria
    2. Aminoaciduria
    3. Albuminuria
  2. Following milk ingestion
    1. Urine reducing substances positive
    2. Urine Glucose negative
Diagnosis: Identify false positives on Newborn Screen
1. Distinguish homozygous deficiency from heterozygotes
2. Heterozygotes need no management and are asymptomatic
Management
1. Eliminate lactose from the diet

Galactosemias (C0016952)
Definition (MSH)	A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (OVARIAN FAILURE, PREMATURE); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
Definition (CSP)	group of inherited enzyme deficiencies which feature elevations of galactose in the blood; this condition may be associated with deficiencies of galactokinase, UDP glucose-hexose-1-phosphate uridylyltransferase (classic form), or UDP glucose 4-epimerase; the classic form presents in infancy with failure to thrive, vomiting, and intracranial hypertension; affected individuals also may develop mental retardation, jaundice, hepatosplenomegaly, ovarian failure and cataracts.
Concepts	Disease or Syndrome (T047)
ICD9	271.1
English	Galactosaemia, Galactose intolerance, Galactosemia, Galactosemias, GALT DEFICIENCY
Spanish	galactosemia, intolerancia a la galactosa
Credits	Derived from the NIH UMLS (Unified Medical Language System)