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Transferase Deficiency Galactosemia

MedGen UID:
443018
•Concept ID:
C2825578
•
Disease or Syndrome
Synonym: Transferase-deficient Galactosemia

Definition

A disorder characterized by the body''s inability to metabolize galactose. This type of galactosemia is caused by germline mutations in the GALT gene which leads to the inhibition in the activity of the enzyme galactose-1-phosphate uridyl transferase. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTransferase Deficiency Galactosemia

Professional guidelines

PubMed

The Importance of Neonatal Screening for Galactosemia.
Badiu Tișa I, Achim AC, Cozma-Petruț A
Nutrients 2022 Dec 20;15(1) doi: 10.3390/nu15010010. PMID: 36615667Free PMC Article
Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet)
J Inherit Metab Dis 2017 Mar;40(2):171-176. Epub 2016 Nov 17 doi: 10.1007/s10545-016-9990-5. PMID: 27858262Free PMC Article

Recent clinical studies

Etiology

Structure-function analyses of a common mutation in blacks with transferase-deficiency galactosemia.
Lai K, Elsas LJ
Mol Genet Metab 2001 Sep-Oct;74(1-2):264-72. doi: 10.1006/mgme.2001.3230. PMID: 11592823
Neurologic complications in galactosemia.
Koch TK, Schmidt KA, Wagstaff JE, Ng WG, Packman S
Pediatr Neurol 1992 May-Jun;8(3):217-20. doi: 10.1016/0887-8994(92)90072-7. PMID: 1622520
Studies on the molecular defect in galactosemia.
Tedesco TA
UCLA Forum Med Sci 1975;(18):467-77. doi: 10.1016/b978-0-12-139050-1.50034-3. PMID: 173062

Diagnosis

Neurologic complications in galactosemia.
Koch TK, Schmidt KA, Wagstaff JE, Ng WG, Packman S
Pediatr Neurol 1992 May-Jun;8(3):217-20. doi: 10.1016/0887-8994(92)90072-7. PMID: 1622520
Feminization in a galactosemic girl in the presence of hypergonadotropic hypogonadism.
Schwarz HP, Zimmermann A, Carasso A, Zuppinger K
Acta Endocrinol Suppl (Copenh) 1986;279:428-33. doi: 10.1530/acta.0.112s428. PMID: 2946136
Curious neurologic sequelae in galactosemia.
Lo W, Packman S, Nash S, Schmidt K, Ireland S, Diamond I, Ng W, Donnell G
Pediatrics 1984 Mar;73(3):309-12. PMID: 6701054
Automated fluorometric micromethod for detection of transferase-deficiency galactosemia.
Frazier DP, Summer GK
J Lab Clin Med 1974 Feb;83(2):334-8. PMID: 4810959

Therapy

Neurologic complications in galactosemia.
Koch TK, Schmidt KA, Wagstaff JE, Ng WG, Packman S
Pediatr Neurol 1992 May-Jun;8(3):217-20. doi: 10.1016/0887-8994(92)90072-7. PMID: 1622520
Feminization in a galactosemic girl in the presence of hypergonadotropic hypogonadism.
Schwarz HP, Zimmermann A, Carasso A, Zuppinger K
Acta Endocrinol Suppl (Copenh) 1986;279:428-33. doi: 10.1530/acta.0.112s428. PMID: 2946136

Clinical prediction guides

Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family.
Fridovich-Keil JL, Langley SD, Mazur LA, Lennon JC, Dembure PP, Elsas JL 2nd
Am J Hum Genet 1995 Mar;56(3):640-6. PMID: 7887417Free PMC Article

Supplemental Content

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