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GalactosemiaAka: GALT Deficiency

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  1. See Also
    1. Inborn Errors of Metabolism
    2. Inborn Error of Small Molecule Metabolism
  2. Epidemiology
    1. Identified in newborn period
  3. 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
  4. Symptoms
    1. Presentation follows milk ingestion after days to weeks
    2. Vomiting
    3. Diarrhea
    4. Dehydration
    5. Lethargy
    6. Weight loss
  5. 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
  6. 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
  7. Diagnosis: Identify false positives on Newborn Screen
    1. Distinguish homozygous deficiency from heterozygotes
    2. Heterozygotes need no management and are asymptomatic
  8. 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.
ConceptsDisease or Syndrome (T047)
ICD9271.1
MSHD005693
EnglishGalactosaemia, Galactose intolerance, GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY, Galactosemia, Galactosemias, GALT DEFICIENCY
Spanishgalactosemia, intolerancia a la galactosa
Parent ConceptsDisorder of carbohydrate metabolism (C0149670), Carbohydrate Metabolism, Inborn Errors (C0007001), Enzyme Deficiency (C0149676), Disorder of carbohydrate transport or metabolism NOS (C0154249), Brain Diseases, Metabolic, Inborn (C0752109), Galactosemias (C0016952), Disorder of galactose metabolism (C0342745), Ambiguous concept (C1274012)
SourcesAOD, CSP, DXP, ICD9CM, LCH, LNC, MSH, MTH, NDFRT, OMIM, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



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