What galactocemia is worse type 1 2 or 3?

Answer 1

classic| severe. classic galactosemia, can result in life-threatening complication's (classic galactocemia is the most severe type of this disorder)

clinical virant| moderate?

biochemical virant| mild/moderate?

durate virant| mild/severe? (mild fourm of classic galactocemia)

Answer 2

what's wors in order of: severities? severities

1. • classic galactosemia| (type1 galt)|

2. • duarte variant galactosemia|

3. • clinical variant galactosemia|

or#4. • biochemical variant galactosemia|

galactocemia severities|

1. sever

2. moderate/severe

3. mild/severe

4. mild/moderate

Answer 3

classic| severe. classic galactosemia, can result in life-threatening complication's (classic galactocemia is the most severe type of this disorder)

clinical virant|

biochemical virant|

durate virant| mild/severe

Answer 4

1. classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within sometime during birth, or, atleast a few days after birth. severe

2. galactosemia type IV is likely to result in a buildup of β-d-galactose. In type I and type III galactosemia, the buildup of galactose 1-phosphate has been proposed to be responsible for many of the manifestations of these diseases. moderate/severe

3. galactose epimerase deficiency (type3 or typeIII) moderate (moderate/severe? moderate? mild/severe. mild/moderate or just: mild?) Affected infants develop cataracts but otherwise experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.

4. galactosemia type II causes fewer medical problems than the classic type. Affected infants develop cataracts but otherwise experience few long-term complications. mild/moderate?

5. durate galactosemia (dg)| mild/severe?

Answer 5

classic| severe. classic galactosemia, can result in life-threatening complication's (classic galactocemia is the most severe type of this disorder)

clinical virant| moderate?

biochemical virant| mild/moderate?

durate virant| mild/severe?

Answer 6

what's severe type/fourm in: lactose intolerance? galactocemia is wors then li is

type/fourm| severities|

1. classic|

2. developmental|

3. congenital|

4. primary|

5. secondary|

or #6. semi

primary, secondary, developmental or congenital

Answer 7

1. classic galactosemia. galactose-1-phosphate uridyltransferase deficiency; galactosemia type 1; galt deficiency; galactose-1-phosphate uridyltranferase deficiency; galactose-1-phosphate uridyl transferase deficiency; galactose-1-phosphate uridyl-transferase deficiency disease; galactosemia, classic| type1/sever type/fourm

1. Galactose-1-phosphate uridyltransferase deficiency; Galactosemia type 1; GALT deficiency

2. Galactose-1-phosphate uridyl transferase deficiency

3. Galactose-1-phosphate uridyltransferase deficiency

4. Galactose-1-phosphate uridyl-transferase deficiency disease

5. Galactosemia type 1

6. Galactosemia, classic

2. Galactose epimerase deficiency. UDP-Galactose-4-epimerase deficiency; GALE deficiency; Galactosemia 3; Epimerase deficiency galactosemia; Galactosemia type 3; GALE-D; Uridine diphosphate galactose-4-epimerase deficiency| modrate/severe

1. galactocemia IV

2. GALE-D (Galactose epimerase deficiency) galactocemia

3. GALE deficiency (Galactose epimerase deficiency) galactocemia

3. Galactokinase deficiency. GALK deficiency; Galactosemia 2; Hereditary galactokinase deficiency; Galactokinase deficiency galactosemia; GALK-D; Galactosemia type 2| mild galactocemia| Galactokinase deficiency (GALK)

1. GALK deficiency

2. GALK-D

3. Galactokinase deficiency

or: durate galactocemia (dg) Duarte Galactosemia mild galactocemia/mild variant of classic galactosemia

note: UDP-Galactose-4-epimerase deficiency; GALE deficiency

or: Uridine diphosphate galactose-4-epimerase deficiency

or: Galactosemia 3; Epimerase deficiency galactosemia; Galactosemia type 3

sound's somehow, they could be a little confusing

Answer 8

part#4 answer| Duarte variant (DG) galactosemia results from compound heterozygosity for a profound GALT pathogenic variant (G) and a second allele known as Duarte 2 (D2) was originally characterized by an abnormal banding pattern on gel electrophoresis or isoelectric focusing. It is now known to encompass a haplotype of four variants including two intronic changes D2 allele reduces GALT activity by approximately 50%, such that when present in trans with a classic galactosemia allele Classic galactosemia pathogenic variant's can occur resulting in complete loss of activity on that allele. A second variant, Duarte 1 (D1, also known as the Los Angeles, or LA, variant), shares the D2 electrophoretic banding pattern but is not associated with reduced GALT activity. For Duarte variant galactosemia suspicious cases, it is most appropriate to test for the 4-bp GALT promoter deletion to distinguish between the D1 and D2 variants.

Answer 9

part#3 answer| Other common pathogenic variants include: c.855G>T (p.K285N), c.626A>G (p.Y209C), c.413C>T (p.T138M), c.584T>C (p.L195P) and IVS2-2A>G. A deletion of approximately 5.5 kb is common among Ashkenazi Jewish individual's. All of these variants are associated with near or complete loss of enzyme activity, although for p.S135L the deficiency may be confined to RBCs.

Answer 10

part#2 answer| Galactosemia encompasses three distinct enzymatic deficiencies in the Leloir pathway of galactose metabolism (Figure 1). This pathway plays a critical role in converting D-galactose to glucose-1-phoshate for entry into glycolysis, as well as supplying uridine diphosphate galactose (UDP-galactose) for the galactosylation of carbohydrates and lipids. Classic galactosemia (MIM 230400) is caused by deficient galactose-1-phosphate uridyltransferase (GALT) activity, leading to elevated galactose-1-phosphate (Gal-1-P) and other galactose metabolites in blood and urine. A variant form of galactosemia, referred to as Duarte variant or DG galactosemia, is characterized by approximately 25% of normal GALT activity and may be clinically benign.1 Galactokinase (GALK) deficiency and UDP-galactose-4′-epimerase (GALE) deficiency are clinically and biochemically distinct from classic galactosemia. For each of these conditions, the diagnosis is based on the demonstration of severely reduced or absent enzyme activity in red blood cells (RBCs). DNA analysis of the GALT, GALK1, or GALE genes is often performed as part of the diagnostic evaluation. Galactose, deriving from diet and, in minor part, from endogenous synthesis, is phosphorylated to galactose-1-phosphate (Gal-1-P) by galactokinase, the first enzyme in the Leloir pathway. Uridine diphosphate (UDP)-galactose is produced from Gal-1-P and UDP-glucose through the enzyme galactose-1-phosphate uridyltransferase. UDP-galactose is then converted to UDP-glucose by the enzyme uridine diphosphate galactose-4-epimerase. UDP-glucose is recycled back into the pathway. Because galactosemia is included in all newborn screening programs in the United States and many other countries worldwide, the majority of diagnostic testing originates from this referral source. Newborn screening for classic galactosemia identifies patients with decreased GALT activity in dried blood spots (DBS) and, for some states, elevated galactose sugars. States including galactose sugars as part of their screening also identify cases of GALK and GALE deficiencies, while those relying only on galactose sugars alone may miss cases of GALT deficiency in patients on a galactose-limited diet. Galactosemia testing may also be initiated by a positive family history, or by nonspecific features of the disease in an older patient. Although diagnostic testing is relatively straightforward, significant variability can result from preanalytic and analytic influences if not properly controlled. These guidelines were developed to delineate best practices for enzyme and metabolite testing for galactosemia and to characterize variables that can influence test performance and results interpretation. Biochemical and molecular characteristics of galactose-metabolizing enzymes Galactose-1-phosphate uridyltransferase Galactose-1-phosphate uridyltransferase (GALT; EC 2.7.7.12), the second enzyme of the Leloir pathway, is a member of the histidine triad superfamily and is a homodimer composed of two 43-kDa subunits. This enzyme catalyzes the interconversion of Gal-1-P to glucose-1-phosphate, with the concomitant interconversion of the co-substrate UDP-glucose to UDP-galactose. The reaction follows a “ping-pong” mechanism whereby histidine at the active site reacts with UDP-glucose loading the enzyme with uridine 5′-monophosphate (UMP); UMP then reacts with galactose-1-phosphate, forming the final product, UDP-galactose. The GALT gene encompasses 11 exons spanning 4.3 kb of chromosome 9p13. An open-access database has curated more than 250 pathogenic variants including nonsense, missense, frameshift, splice site variants, and large deletions. The vast majority (~85%) are classified as causing profound enzyme impairment consistent with classic galactosemia; of these, 61% are missense variants. Among patients of European descent, c.563A>G (p.Q188R) is the most common variant and accounts for 64% of all pathogenic variants seen. The c.404C>T (p.S135L) variant is associated with an attenuated phenotype, and is found almost exclusively in patients of African origin.