Endocrinology Book

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Galactosemia

Aka: Galactosemia, GALT Deficiency
  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 (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
Definition (NCI) An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure.
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)
MSH D005693
ICD9 271.1
ICD10 E74.21
SnomedCT 38177000, 154738008, 190747003, 267498002, 190745006, 190749000
LNC LP56739-3, MTHU021572
English Galactosaemia NOS, Galactosemia NOS, Galactosemias, galactosemia (diagnosis), galactosemia, Galactosemias [Disease/Finding], disorder galactosemia, galactosemias, galactosaemia, galactose intolerance, Galactosemia, Galactosemia NOS (disorder), Galactosaemia, Galactose intolerance, Galactosemia (disorder), Galactosemia, NOS, Galactosaemia, NOS, Galactose intolerance, NOS, Galactosemia (disorder) [Ambiguous]
Italian Galattosemia, Intolleranza al galattosio, Disturbi del metabolismo del galattosio, Galactosemie
Japanese ガラクトース不耐症, ｶﾞﾗｸﾄｰｽｹﾂｼｮｳ, ｶﾞﾗｸﾄｰｽﾌﾀｲｼｮｳ, ｶﾞﾗｸﾄｰｽｹｯｼｮｳ, ガラクトキナーゼ欠損症, ガラクトキナーゼ-1-リン酸ウリジルトランスフェラーゼ欠損症, UDPグルコースヘキソース-1-リン酸ウリジリルトランスフェラーゼ欠損症, ガラクトース血, UDPグルコース-4-エピメラーゼ欠損症, ガラクトース血症
Swedish Galaktosemier
Czech galaktosémie, Galaktosemie, Intolerance galaktózy, galaktosemie
Finnish Galaktosemiat
Russian GALAKTOZEMII, ГАЛАКТОЗЕМИИ
Polish Galaktozemia, Choroby z niedoboru galaktokinazy
Hungarian Galactose intolerantia, Galactosaemia
Norwegian Galaktosemi, Galaktosemier
Spanish galactosemia, SAI (trastorno), galactosemia, SAI, Deficiencia de UDPglucosa-Hexosa-1-Fosfato Uridililtransferasa, Enfermedad por Deficiencia de Galactocinasa, galactosemia (concepto no activo), galactosemia (trastorno), galactosemia, intolerancia a la galactosa, Galactosemia, Intolerancia a la galactosa, Galactosemias
Portuguese Deficiência de UDPglucose-Hexose-1-Fosfato Uridililtransferase, Galactosemia, Intolerância à galactose, Galactosemias
Dutch galactose-intolerantie, galactosemie, Galactosemie
French Galactosémie, Intolérance au galactose, Galactosémies
German Galaktosaemie, Galaktoseunvertraeglichkeit, Galaktosämie
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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