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Galactosuria

MedGen UID:
120615
Concept ID:
C0268157
Disease or Syndrome
Synonym: Increased urinary galactose level
SNOMED CT: Galactosuria (71690006)
 
HPO: HP:0012023

Definition

Elevated concentration of galactose in the urine. [from HPO]

Conditions with this feature

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
MedGen UID:
82777
Concept ID:
C0268151
Disease or Syndrome
The term "galactosemia" refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia (not covered in this chapter). This GeneReview focuses on: Classic galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage, bleeding, and E coli sepsis in untreated infants. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve and the complications of liver failure, sepsis, and neonatal death are prevented; however, despite adequate treatment from an early age, children with classic galactosemia remain at increased risk for developmental delays, speech problems (termed childhood apraxia of speech and dysarthria), and abnormalities of motor function. Almost all females with classic galactosemia manifest hypergonadatropic hypogonadism or premature ovarian insufficiency (POI). Clinical variant galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage including cirrhosis, and bleeding in untreated infants. This is exemplified by the disease that occurs in African Americans and native Africans in South Africa. Persons with clinical variant galactosemia may be missed with newborn screening as the hypergalactosemia is not as marked as in classic galactosemia and breath testing is normal. If a lactose-restricted diet is provided during the first ten days of life, the severe acute neonatal complications are usually prevented. African Americans with clinical variant galactosemia and adequate early treatment do not appear to be at risk for long-term complications, including POI.
Deficiency of galactokinase
MedGen UID:
120614
Concept ID:
C0268155
Disease or Syndrome
Galactosemia II (GALAC2), or galactokinase deficiency, is an autosomal recessive disorder that causes cataract formation in children not maintained on a lactose-free diet. Cataract formation is the result of osmotic phenomena caused by the accumulation of galactitol in the lens (Asada et al., 1999). For a discussion of genetic heterogeneity of galactosemia, see GALAC1 (230400).
UDPglucose-4-epimerase deficiency
MedGen UID:
199598
Concept ID:
C0751161
Disease or Syndrome
Epimerase deficiency galactosemia (GALE deficiency galactosemia) is generally considered a continuum comprising several forms: Generalized. Enzyme activity is profoundly decreased in all tissues tested. Peripheral. Enzyme activity is deficient in red blood cells (RBC) and circulating white blood cells, but normal or near normal in all other tissues. Intermediate. Enzyme activity is deficient in red blood cells and circulating white blood cells and less than 50% of normal levels in other cells tested. Infants with generalized epimerase deficiency galactosemia develop clinical findings on a regular milk diet (which contains lactose, a disaccharide of galactose and glucose); manifestations include hypotonia, poor feeding, vomiting, weight loss, jaundice, hepatomegaly, liver dysfunction, aminoaciduria, and cataracts. Prompt removal of galactose/lactose from their diet resolves or prevents these acute symptoms. Longer-term features that may be seen in those with generalized epimerase deficiency include short stature, developmental delay, sensorineural hearing loss, and skeletal anomalies. In contrast, neonates with the peripheral or intermediate form generally remain clinically well even on a regular milk diet and are usually only identified by biochemical testing, often in newborn screening programs.
Trichohepatoenteric syndrome 1
MedGen UID:
1644087
Concept ID:
C4551982
Disease or Syndrome
Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly characterized immunodeficiency, recurrent infections, skin abnormalities, and liver disease. Mild intellectual disability (ID) is seen in about 50% of affected individuals. Less common findings include congenital heart defects and platelet anomalies. To date 52 affected individuals have been reported.

Professional guidelines

PubMed

Shinka T, Inoue Y, Peng H, Zhen-Wei X, Ose M, Kuhara T
J Chromatogr B Biomed Sci Appl 1999 Sep 24;732(2):469-77. doi: 10.1016/s0378-4347(99)00320-5. PMID: 10517369
Kuhara T, Shinka T, Inoue Y, Ohse M, Zhen-wei X, Yoshida I, Inokuchi T, Yamaguchi S, Takayanagi M, Matsumoto I
J Chromatogr B Biomed Sci Appl 1999 Aug 6;731(1):141-7. doi: 10.1016/s0378-4347(99)00205-4. PMID: 10492000

Recent clinical studies

Etiology

Satekge TM, Kiabilua O, Krause A, Pillay TS
Clin Chim Acta 2020 Jun;505:73-77. Epub 2020 Feb 21 doi: 10.1016/j.cca.2020.02.018. PMID: 32092319
Fiermonte G, Parisi G, Martinelli D, De Leonardis F, Torre G, Pierri CL, Saccari A, Lasorsa FM, Vozza A, Palmieri F, Dionisi-Vici C
Mol Genet Metab 2011 Dec;104(4):501-6. Epub 2011 Aug 25 doi: 10.1016/j.ymgme.2011.08.022. PMID: 21914561
Hutchin T, Preece MA, Hendriksz C, Chakrapani A, McClelland V, Okumura F, Song YZ, Iijima M, Kobayashi K, Saheki T, McKiernan P, Baumann U
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S151-5. Epub 2009 Jun 11 doi: 10.1007/s10545-009-1116-x. PMID: 19517266
Kuhara T, Shinka T, Inoue Y, Ohse M, Zhen-wei X, Yoshida I, Inokuchi T, Yamaguchi S, Takayanagi M, Matsumoto I
J Chromatogr B Biomed Sci Appl 1999 Aug 6;731(1):141-7. doi: 10.1016/s0378-4347(99)00205-4. PMID: 10492000
Winder AF, Fells P, Jones RB, Kissun RD, Menzies IS, Mount JN
Br J Ophthalmol 1982 Jul;66(7):438-41. doi: 10.1136/bjo.66.7.438. PMID: 7093182Free PMC Article

Diagnosis

Clayton PT
J Inherit Metab Dis 2003;26(2-3):135-46. doi: 10.1023/a:1024429032116. PMID: 12889656
Henderson H, Leisegang F, Brown R, Eley B
BMC Pediatr 2002 Sep 2;2:7. doi: 10.1186/1471-2431-2-7. PMID: 12350230Free PMC Article
Shinka T, Inoue Y, Peng H, Zhen-Wei X, Ose M, Kuhara T
J Chromatogr B Biomed Sci Appl 1999 Sep 24;732(2):469-77. doi: 10.1016/s0378-4347(99)00320-5. PMID: 10517369
Ramakrishnan S, Sulochana KN, Punitham R, Kar B, Ravishankar K, Vasanthi SB, Lakshminarayanan P
Indian J Pediatr 1998 Nov-Dec;65(6):919-24. doi: 10.1007/BF02831365. PMID: 10773961
Cook JG, Don NA, Mann TP
Arch Dis Child 1971 Aug;46(248):465-9. doi: 10.1136/adc.46.248.465. PMID: 5109408Free PMC Article

Therapy

Schwarz HP, Schaefer T, Bachmann C
Clin Chem 1985 Mar;31(3):420-2. PMID: 3971562

Prognosis

Henderson H, Leisegang F, Brown R, Eley B
BMC Pediatr 2002 Sep 2;2:7. doi: 10.1186/1471-2431-2-7. PMID: 12350230Free PMC Article

Clinical prediction guides

Şeker-Yılmaz B, Kör D, Tümgör G, Ceylaner S, Önenli-Mungan N
Turk J Pediatr 2017;59(3):311-314. doi: 10.24953/turkjped.2017.03.012. PMID: 29376577
Vitoria I, Dalmau J, Ribes C, Rausell D, García AM, López-Montiel J, Rubio V
Mol Genet Metab 2013 Sep-Oct;110(1-2):181-3. Epub 2013 Jun 21 doi: 10.1016/j.ymgme.2013.06.011. PMID: 23835251
Henderson H, Leisegang F, Brown R, Eley B
BMC Pediatr 2002 Sep 2;2:7. doi: 10.1186/1471-2431-2-7. PMID: 12350230Free PMC Article

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