Galactosemia malady

MedlinePlus: Your liver is the largest organ inside your body. it is also one of the most important. the liver has many jobs, including changing food into energy and cleaning alcohol and poisons from the blood. your liver also makes bile, a yellowish-green liquid that helps with digestion. there are many kinds of liver diseases. viruses cause some of them, like hepatitis a, hepatitis b and hepatitis c. others can be the result of drugs, poisons or drinking too much alcohol. if the liver forms scar tissue because of an illness, it's called cirrhosis. jaundice, or yellowing of the skin, can be one sign of liver disease. cancer can affect the liver. you could also inherit a liver disease such as hemochromatosis.²³

MalaCards: Galactosemia, also known as galt deficiency, is related to fatty liver disease and galactose epimerase deficiency. An important gene associated with Galactosemia is GALT (galactose-1-phosphate uridylyltransferase), and among its related pathways are Galactose catabolism and Galactose metabolism. The drugs mct and alglucerase and the compounds uridine diphosphate and xylose have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and skin, and related mouse phenotypes are renal/urinary system and behavior/neurological.

Disease Ontology: A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.⁶

NIH Rare Diseases: Galactokinase deficiency, or galactosemia type 2, is a type of galactosemia that affects how the body processes a simple sugar called galactose.  A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy. Galactokinase deficiency causes fewer medical problems than the classic type. Affected infants usually develop cataracts, but otherwise experience few long-term complications. This condition is caused by mutations in the GALK1 gene and is inherited in an autosomal recessive fashion.³⁰

Genetics Home Reference: Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy.¹⁷

Wikipedia: Galactosemia (British Galactosaemia) is a rare genetic metabolic disorder that affects an individual\'s...⁴⁴ more...

OMIM: 230400

GeneReviews summary for galactosemia

Aliases & Descriptions:

galactosemia 6 7 44 15 30 16 17 8 33 galt deficiency 44 15 30 16 17 liver diseases 44 17 32 23 43 galactokinase deficiency disease 44 16 17 43 galactose-1-phosphate uridyltransferase deficiency 15 30 16 galactokinase deficiency 30 8 32 classic galactosemia 44 15 17 galactose-1-phosphate uridyl-transferase deficiency disease 44 17 utp hexose-1-phosphate uridylyltransferase deficiency 44 17 udp-galactose-4-epimerase deficiency disease 44 17 udpglucose 4-epimerase deficiency disease 17 43 galactosemia, classic 30 16 liver dysfunction 32 43 galk deficiency 30 16

liver failure 32 43 galactosemias 32 43 udp glucose hexose-1-phosphate uridylyltransferase deficiency 44 udpglucose hexose-1-phosphate uridylyltransferase deficiency 17 udp glucose 4-epimerase deficiency disease 44 hereditary galactokinase deficiency 30 epimerase deficiency galactosemia 17 galactose epimerase deficiency 17 deficiency of galactokinase 43 classical galactosemia 43 galactose intolerance 6 galactosemia 2 30 galactosaemia 6 liver disease 8

Diseases related to galactosemia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 282)

id	Related Disease	Score	Top Affiliating Genes
1	fatty liver disease	37.0	SLC25A13, TF, ACADM, INS, BGLAP
2	galactose epimerase deficiency	33.0	GALT, GALK1, GALE
3	insulin resistance	31.4	SLC2A2, G6PC, CASP1, INS, CD36, BGLAP
4	fanconi-bickel syndrome	30.6	SLC2A2, G6PC
5	nonalcoholic steatohepatitis	30.5	G6PC, TF, SLC25A13, INS
6	fibrosis	30.4	LGALS1, SLC25A13, BTD, BGLAP, CD36, INS
7	hepatitis	30.3	INS, CASP1, AKR1B1, ACADM, GALT, SLC2A2
8	obesity	30.1	AKR1B1, G6PD, G6PC, CASP1, ACADM, TF
9	galactokinase deficiency	29.9	GALT, GALK1
10	cystic fibrosis	29.7	BGLAP, BTD, TF, ACADM, OTC, INS
11	morbid obesity	29.3	INS, TF, BGLAP, SLC2A2
12	liver cirrhosis	29.3	OTC, G6PC, TF, SLC25A13
13	wilson disease	29.1	TF, G6PC, OTC, G6PD
14	hepatocellular carcinoma	29.1	BTD, PAPSS1, LGALS1, TF, CASP1, CD36
15	citrin deficiency	28.3	GALK1, SLC25A13
16	phenylketonuria	28.1	ACADM, G6PD, OTC, BTD
17	congenital hypothyroidism	27.6	ACADM, G6PD, BTD, BGLAP
18	viral hepatitis	27.5	G6PD, TF, BGLAP, INS
19	carcinoma	27.5	GALE, SLC25A13, CD36, TF, PAPSS1, G6PD
20	congenital disorder of glycosylation	27.2	TF, PMM2
21	premature ovarian failure	26.8	GDF9, PMM2, FSHB, INS, GALT
22	hypertension	26.8	BGLAP, CD36, INS, AKR1B1, TF, G6PC
23	type 2 diabetes mellitus	26.7	CD36, INS, AKR1B1, G6PC, SLC2A2, TF
24	blindness	26.7	BGLAP, FSHB, CD36, INS, AKR1B1, G6PC
25	jaundice	26.2	SLC25A13, GALT, TF, G6PD, GALK1, BTD
26	thalassemia	26.2	TF, G6PD, INS, BGLAP
27	atherosclerosis	25.8	CASP1, AKR1B1, G6PD, CD36, INS, BGLAP
28	beta thalassemia	25.5	BGLAP, TF, INS, G6PD
29	pneumonia	25.2	INS, GALE, GALK1, BGLAP, TF, G6PD
30	cataract	25.1	GALE, G6PD, CD36, TF, INS, GALK1
31	sickle cell disease	25.0	BGLAP, G6PD, TF, INS, CD36, BTD
32	peritonitis	24.9	TF, G6PD, AKR1B1, INS, CD36, BGLAP
33	cholesterol	24.7	INS, CD36, ACADM, AKR1B1, BGLAP, CASP1
34	homocysteine	24.6	AKR1B1, TF, INS, CD36, BTD, SLC2A2
35	glomerulonephritis	24.6	INS, BGLAP, CD36, TF, CASP1
36	hypothyroidism	24.3	BTD, CD36, SLC25A13, TF, G6PD, ACADM
37	thrombosis	24.3	OTC, INS, LGALS1, G6PD, BGLAP, CD36
38	diabetes mellitus	24.0	AKR1B1, BTD, INS, G6PC, CD36, BGLAP
39	cerebritis	23.6	TF, AKR1B1, ACADM, BTD, OTC, G6PC
40	thyroiditis	23.4	G6PD, LGALS1, UGT8, FSHB, CD36, INS
41	retinitis	23.3	LGALS1, G6PD, TF, INS, CASP1, AKR1B1
42	ischemia	23.2	AKR1B1, G6PD, TF, G6PC, CASP1, INS
43	colorectal cancer	23.1	INS, CD36, GALK1, LGALS1, GIF, OTC
44	pancreatitis	22.3	OTC, SLC25A13, BGLAP, G6PC, G6PD, LGALS1
45	liver disease	14.5
46	organic acidemia	13.6	BTD, ACADM
47	short-chain acyl-coa dehydrogenase deficiency	13.5	OTC, ACADM
48	medium-chain acyl-coenzyme a dehydrogenase deficiency	13.5	BTD, ACADM
49	multiple carboxylase deficiency	13.5	ACADM, OTC, BTD
50	lacticacidemia due to pdx1 deficiency	13.4	OTC, G6PC

Clinical features from OMIM: 230400

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 alglucerase, imiglucerase, mct

Genetic tests related to galactosemia:

id	Genetic test	Affiliating Genes
1	Galactosemia clinical/research	GALK1, GALT

MalaCards organs/tissues related to galactosemia:

²²

MGI Mouse Phenotypes related to galactosemia:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system phenotype	MP:0005367	7.3	SLC25A13, AGA, G6PC, OTC, AKR1B1, CASP1
2	behavior/neurological phenotype	MP:0005386	6.9	AGA, G6PC, OTC, AKR1B1, IMPA1, INS
3	growth/size phenotype	MP:0005378	5.9	AGA, TF, PMM2, SLC2A2, SLC25A13, G6PD
4	homeostasis/metabolism phenotype	MP:0005376	5.2	BTD, GDF9, GALT, GALK1, SLC25A13, SLC2A2
5	mortality/aging	MP:0010768	5.1	G6PC, G6PD, AGA, TF, PMM2, SLC2A2

Articles related to galactosemia:

(show top 50)    (show all 90)

id	Title	Authors	Year	Affiliating Genes
1	Newborn screening for galactosemia: a review of 5 yea rs of data and audit of a revised reporting approach. (20075179)	Freer D.E.... Finegold D.	2010	GALT
2	Analysis of galactosemia-linked mutations of GALT enz yme using a computational biology approach. (20008339)	Facchiano A.... Marabotti A.	2010	GALT
3	Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells. (19250319)	Bang Y.L.... Song Y.H.	2009	GALE
4	Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia. (19100247)	Michelakakis H.... Dimitriou E.	2009	AGA
5	Outcomes of siblings with classical galactosemia. (19181333)	Hughes J.... Treacy E.P.	2009	GALT
6	Serum markers of bone turnover in children and adolescents with classic galactosemia. (18650146)	Gajewska J.... Milanowski A.	2008	CD36, GALT
7	Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency. (18207281)	Feillet F.... Gueant J.L.	2008	SLC25A13
8	Issues on universal screening for galactosemia. (19904445)	Padilla C.D.... Lam S.T.	2008	GALK1, GALT, GALE
9	Inhibition of caspase-1/interleukin-1beta signaling prevents degeneration of retinal capillaries in diabetes and galactosemia. (17192486)	Vincent J.A.... Mohr S.	2007	CASP1
10	Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia model. (17643331)	Slepak T.I.... Lai K.	2007	IMPA1
11	The molecular relationship between deficient UDP-galactose uridyl transferase (GALT) and ceramide galactosyltransferase (CGT) enzyme function: a possible cause for poor long-term prognosis in classic galactosemia. (16125333)	Lebea P.J.... Pretorius P.J.	2005	GALT, UGT8
12	Homology modeling studies on human galactose-1-phosphate uridylyltransferase and on its galactosemia-related mutant Q188R provide an explanation of molecular effects of the mutation on homo- and heterodimers. (15689161)	Marabotti A.... Facchiano A.M.	2005	GALT
13	Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia. (15639193)	Wasilenko J.... Fridovich-Keil J.L.	2005	GALE
14	Bone mineral turnover and bone densitometry in patients with a high-risk diet: hyperphenylalaninemia and galactosemia (16219275)	FernA!ndez Espuelas C.... Baldellou VA!zquez A.	2005	BGLAP
15	Molecular structure of human galactokinase: implications for type II galactosemia. (15590630)	Thoden J.B.... Holden H.M.	2005	GALK1
16	Hypotonia and lethargy: initial manifestations of a new case of galactosemia (15284965)	VA!zquez-LA^pez M.E.... Morales-Redondo R.	2004	GALT
17	Extended [13C]galactose oxidation studies in patients with galactosemia. (15172000)	Berry G.T.... Segal S.	2004	GALT
18	Galactokinase: structure, function and role in type II galactosemia. (15526155)	Holden H.M.... Reece R.J.	2004	GALK1
19	Bone metabolism in galactosemia. (15454106)	Panis B.... Rubio-Gozalbo M.E.	2004	GIF, BGLAP
20	From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency (14753129)	Bosch A.M.... Bakker H.D.	2004	GALT
21	Screening for congenital hypothyroidism, phenylketonuria, galactosemia and biotinidase deficiency in a sample of mentally retarded patients in the city of Havana (12766862)	Marrero-GonzA!lez N.... Lantigua-Cruz A.	2003	BTD
22	Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia. (12552079)	Dobrowolski S.F.... Naylor E.W.	2003	GALT
23	Molecular analysis in newborns from Texas affected with galactosemia. (11754113)	Yang Y.P.... Garcia-Heras J.	2002	GALT
24	The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa. (12350230)	Henderson H.... Eley B.	2002	GALK1, GALT
25	Metabolism of 13C galactose by lymphoblasts from patients with galactosemia determined by NMR spectroscopy. (12468275)	Wehrli S.L.... Segal S.	2002	GALT
26	Unusual presentation of galactosemia in a 4-month-old child. (11827309)	Gnanou J.V.... Uthappa S.	2001	GALK1
27	A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia. (11903335)	Henderson J.M.... Fridovich-Keil J.L.	2001	GALE
28	Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R). (10649501)	Kozak L.... Bzduch V.	2000	GALT
29	Transient galactosemia detected by neonatal mass screening. (10365579)	Ono H.... Hamakawa M.	1999	GALK1, GALE
30	Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. (10220154)	Seyrantepe V.... Reichardt J.K.V.	1999	GALT
31	Identification and characterization of a mutation, in the human UDP- galactose-4-epimerase gene, associated with generalized epimerase- deficiency galactosemia. (9973283)	Wohlers T.M.... Fridovich-Keil J.L.	1999	GALE
32	Defective galactosylation of serum transferrin in galactosemia. (9499382)	Charlwood J.... Winchester B.	1998	TF
33	Molecular and biochemical basis of galactosemia. (9635294)	Wang B.B.... Wong L.J.	1998	GALT
34	Human UDP-galactose 4'epimerase (GALE) gene and identification of five missense mutations in patients with epimerase deficiency galactosemia. (9538513)	Maceratesi P.... Reichardt J.K.V.	1998	GALK1, GALT, GALE
35	Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. (9222760)	Greber-Platzer S.... Strobl W.	1997	GALT
36	Urinary galactonate in patients with galactosemia: quantitation by nuclear magnetic resonance spectroscopy. (9396569)	Wehrli S.L.... Segal S.	1997	GALT
37	Characterization of two mutations associated with epimerase- deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase. (9326324)	Quimby B.B.... Fridovich-Keil J.L.	1997	GALE
38	Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family. (7887417)	Fridovich-Keil J.L.... Elsas L.J. II	1995	GALT
39	Galactose-1-phosphate in the pathophysiology of galactosemia. (7671964)	Gitzelmann R.	1995	G6PC, G6PD
40	A molecular approach to galactosemia. (7671959)	Elsas L.J.... Dembure P.P.	1995	GALT
41	Radiochemical assay of minute quantities of galactose-1-phosphate uridyltransferase activity in erythrocytes and leukocytes of galactosemia patients. (7554267)	Xu Y.K.... Ng W.G.	1995	GALT
42	Retinopathy in galactosemic dogs continues to progress after cessation of galactosemia. (7887850)	Engerman R.L.... Kern T.S.	1995	INS
43	Prenatal diagnosis of galactosemia. (7671961)	Jakobs C.... Holton J.B.	1995	GALT
44	Biochemical and molecular studies of 132 patients with galactosemia. (7927329)	Ng W.G.... Reichardt J.K.	1994	GALT
45	A common mutation associated with the Duarte galactosemia allele. (8198125)	Elsas L.J.... Fridovich-Keil J.	1994	GALT
46	Molecular characterization of the H319Q galactosemia mutation. (8499924)	Reichardt J.K.V.... Dallapiccola B.	1993	GALT
47	Genetic basis of galactosemia. (1301925)	Reichardt J.K.V.	1992	GALT
48	Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase. (1610789)	Reichardt J.K.V.... Woo S.L.C.	1992	GALT
49	Galactosemia: screening and diagnosis. (1959220)	Beutler E.	1991	GALK1, GALT
50	Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. (2011574)	Reichardt J.K.V.... Woo S.L.C.	1991	GALT

Genes related to galactosemia according to GeneCards:

(show all 27)

id	Symbol	Description	Score	GeneCards Section Context
1	GALT	galactose-1-phosphate uridylyltransferase	11.1	Summaries, Publications
2	GALE	UDP-galactose-4-epimerase	11.1	Publications, Summaries
3	GALK1	galactokinase 1	11.0	Publications
4	BTD	biotinidase	11.0	Publications
5	SLC2A2	solute carrier family 2 (facilitated glucose transporter), member 2	11.0
6	OTC	ornithine carbamoyltransferase	11.0
7	ACADM	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	11.0
8	AKR1B1	aldo-keto reductase family 1, member B1 (aldose reductase)	11.0
9	SLC25A13	solute carrier family 25 (aspartate/glutamate carrier), member 13	11.0	Publications
10	G6PD	glucose-6-phosphate dehydrogenase	11.0	Publications
11	GK2	glycerol kinase 2	11.0
12	GIF	gastric intrinsic factor (vitamin B synthesis)	11.0	Publications
13	GDF9	growth differentiation factor 9	11.0
14	AGA	aspartylglucosaminidase	11.0	Publications
15	FSHB	follicle stimulating hormone, beta polypeptide	11.0	Publications
16	IMPA1	inositol(myo)-1(or 4)-monophosphatase 1	11.0	Publications
17	UGT8	UDP glycosyltransferase 8	11.0	Publications
18	UGP2	UDP-glucose pyrophosphorylase 2	11.0
19	G6PC	glucose-6-phosphatase, catalytic subunit	11.0	Publications
20	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	11.0
21	PMM2	phosphomannomutase 2	11.0
22	LGALS1	lectin, galactoside-binding, soluble, 1	11.0
23	CASP1	caspase 1, apoptosis-related cysteine peptidase	11.0	Publications
24	BGLAP	bone gamma-carboxyglutamate (gla) protein	11.0	Publications
25	TF	transferrin	11.0	Publications
26	CD36	CD36 molecule (thrombospondin receptor)	11.0	Publications
27	INS	insulin	11.0	Publications

Pathways related to galactosemia according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Galactose catabolism38	10.0	GALK1, GALT, GALE
2	Galactose metabolism41	9.6	GALE, GALT, GALK1, G6PC
3	Amino sugar and nucleotide sugar metabolism20	9.4	GALE, GALT, GALK1, PMM2, UGP2
4	Galactose metabolism10	9.4	G6PC, GALK1, GALT, GALE
5	Galactose metabolism20	9.3	GALE, GALT, GALK1, G6PC, AKR1B1, UGP2
6	Selected targets of C/EBPalpha10	8.9	CD36, TF, SLC2A2
7	Metabolic pathways20	7.2	BTD, GALE, GALT, GALK1, PMM2, G6PD

Compounds related to galactosemia according to GeneDecks:

(show top 50)    (show all 66)

id	Compound	Score	Top Affiliating Genes
1	uridine diphosphate32	10.3	GALE, GALK1, AKR1B1
2	xylose32	10.1	LGALS1, AKR1B1, GALT
3	nad+32	10.1	GALE, SLC25A13, G6PD, AKR1B1
4	2-deoxyglucose32	10.1	INS, SLC2A2, GALK1
5	hbig32	10.0	AKR1B1, INS
6	glucose 6-phosphate32 18	11.0	G6PC, G6PD, SLC2A2, GALT
7	lactose32 9 9	12.0	LGALS1, G6PD, GALK1, GALT
8	udpglucose32	9.9	GALE, GALT, GALK1, SLC25A13, G6PC
9	threonine32	9.9	GALK1, AGA, OTC
10	alpha lipoic acid32	9.8	BTD, INS, AKR1B1, G6PD
11	fructose32 9 9	11.8	GALK1, SLC2A2, G6PC, AKR1B1, IMPA1
12	carnitine32	9.7	G6PD, ACADM, OTC, INS
13	mannitol32 9 9	11.7	GALE, GALK1, SLC2A2, G6PD, G6PC, AKR1B1
14	glucose32	9.7	GALT, GALK1, SLC2A2, OTC, LGALS1, BTD
15	calcium gluconate32	9.7	INS, BGLAP
16	streptozotocin32	9.7	SLC2A2, G6PC, AKR1B1, INS
17	galactose-1-phosphate32	9.6	GALE, GALT, GALK1, PMM2, G6PD, IMPA1
18	vitamin b1232	9.6	TF, G6PD, GIF, AKR1B1
19	chromium picolinate32	9.6	TF, INS
20	nadh32 9 18 9	12.5	GALE, SLC25A13, G6PD, G6PC, AKR1B1
21	Gallium nitrate9 9	10.5	TF, BGLAP
22	phenobarbital32 9 9	11.5	TF, G6PD, G6PC, AKR1B1
23	ti6al4v32	9.5	CD36, BGLAP
24	deferiprone32	9.5	TF, BGLAP
25	starch32	9.5	TF, G6PD, INS
26	histidine32	9.4	GALT, G6PC, CASP1, LGALS1
27	glibenclamide32 34	10.3	INS, CASP1, G6PD
28	sialic acid32	9.2	LGALS1, FSHB, TF, GALT
29	adenylate32	9.2	GALT, G6PD, G6PC, AKR1B1, IMPA1, FSHB
30	uric acid32 18	10.0	G6PD, G6PC, CASP1, INS, LGALS1
31	galactose32	8.9	LGALS1, GALE, GALT, GALK1, SLC25A13, SLC2A2
32	fatty acid32	8.9	SLC25A13, G6PC, ACADM, OTC, INS, LGALS1
33	cysteine32	8.9	GDF9, AGA, AKR1B1, FSHB, LGALS1, BGLAP
34	glutamate32	8.9	INS, CASP1, OTC, ACADM, SLC25A13
35	glutaraldehyde32	8.8	TF, G6PD, CD36, LGALS1
36	glycogen32 18	9.8	SLC2A2, G6PC, OTC, CASP1, IMPA1, INS
37	palmitate32	8.6	CD36, INS, ACADM, TF
38	alpha tocopherol32	8.6	BGLAP, CD36, G6PD, TF
39	dmso32	8.6	G6PD, G6PC, CASP1, CD36, LGALS1
40	rapamycin32 42	9.5	G6PD, G6PC, IMPA1, INS, LGALS1
41	ascorbic acid32 18	9.4	BGLAP, CD36, AKR1B1, G6PD, TF
42	hydrocortisone32 9 9	10.2	TF, INS, CD36, BGLAP
43	h2o232	8.2	SLC2A2, G6PD, G6PC, AKR1B1, CASP1, CD36
44	arginine32	8.1	GALT, SLC2A2, G6PC, ACADM, OTC, AKR1B1
45	lactate32	8.1	TF, G6PD, G6PC, ACADM, OTC, AKR1B1
46	aspartate32	8.0	GALT, SLC25A13, TF, AGA, G6PD, G6PC
47	glycerol32 9 18 9	10.9	SLC25A13, G6PD, G6PC, OTC, GK2, AKR1B1
48	creatinine32	7.4	TF, G6PD, OTC, AKR1B1, CASP1, INS
49	glutamine32	7.2	GALT, GALK1, TF, G6PD, G6PC, ACADM
50	estrogen32	6.9	TF, G6PD, AKR1B1, CASP1, INS, CD36

Cellular components related to galactosemia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:005615	8.2	BTD, BGLAP, LGALS1, INS, AKR1B1, GIF

Biological processes related to galactosemia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	galactose catabolic process	GO:019388	10.0	GALK1, GALT, GALE
2	galactose metabolic process	GO:006012	9.9	GALK1, GALT
3	glucose 6-phosphate metabolic process	GO:051156	9.9	G6PD, G6PC
4	glucose transport	GO:015758	9.5	INS, G6PC, SLC2A2
5	carbohydrate metabolic process	GO:005975	8.7	GALE, GALT, GALK1, SLC25A13, SLC2A2, G6PD
6	small molecule metabolic process	GO:044281	6.5	PAPSS1, GALE, GALT, GALK1, SLC25A13, SLC2A2