Parent Category: Reference Standards

Reference Standards for Inborn Errors


Inborn errors of metabolism are inherited genetic disorders that affect one or more of the hundreds of biochemical pathways in the human body. Patients with these disorders are unable to properly use or synthesize certain compounds, such as fatty acids, amino acids, organic acids, or macromolecules, because of defects in the enzymes or other components of various metabolic pathways. These conditions frequently are identified in infants and young children with acute or chronic symptoms. When possible, early diagnoses with timely and effective interventions are essential for preventing permanent neurologic sequelae, disabilities, and other severe adverse outcomes. Biochemical genetic testing is a critical discipline in laboratory medicine for the evaluation, diagnosis, treatment monitoring, clinical management, and in some cases, carrier status assessment, of inherited metabolic diseases. These tests comprise highly complex and specialized laboratory procedures performed for evaluating enzyme activity, functional status of proteins, and levels of metabolites such as amino acids, organic acids, and fatty acids using a wide variety of specimen types including urine, whole blood, plasma, serum, cerebrospinal fluid, muscle biopsy, and other tissue types. Biochemical genetic tests also are among the critical follow-up procedures for diagnosing presumptive cases detected during newborn screening.

Catalog Number Product Name Enrichment
Quantity Price    
5222
Acetyl carnitine
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D14737
Acetyl-d3-L-carnitine HCl
99% D
0.1 g $855     Add to Cart  
0.25 g $1,595     Add to Cart  
D3327
Acetyl-L-carnitine-d3 HCl (N-methyl-d3)
99%
50 mg $790     Add to Cart  
5386
Acetyl-L-carnitine HCl
5 mg $495     Add to Cart  
100 mg $1,500     Add to Cart  
5206
Acryloyl glycine
5 mg $790     Add to Cart  
5224
Butyroyl carnitine
5 mg $820     Add to Cart  
5207
Butyroyl glycine
5 mg $790     Add to Cart  
D5225
Butyroyl N-(methyl-d3)-carnitine
98%D
5 mg $1,200     Add to Cart  
5285
n-Butyryl Carnitine Chloride
5 mg $950     Add to Cart  
D1738
Butyryl-L-carnitine-d3 HCl (N-methyl-d3)
99%D
0.01 g $780     Add to Cart  
0.05 g $1,695     Add to Cart  
D2156
DL-Carnitine-d9 HCl(trimethyl-d9)
98%D
10 mg $190     Add to Cart  
50 mg $590     Add to Cart  
D2149
L-Carnitine-d3 HCl (methyl-d3)
99%D
5 mg $390     Add to Cart  
5462
L-Carnitine HCl
1 g $390     Add to Cart  
5 g $895     Add to Cart  
17894
L-CARNITINE L-TARTRATE / BASE
5 mg     Request Quote  
50 mg     Request Quote  
78336
Caspofungin acetate C0 analog
    Request Quote  
5208
Crotonyl glycine
    Request Quote  
5169
2,4-Decadienoic acid
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5226
Decanoyl Carnitine Chloride
5 mg $1,200     Add to Cart  
D32445
Decanoyl-L-carnitine-d3 HCl (N-methyl-d3)
99%D
0.01 g $810     Add to Cart  
0.05 g $1,795     Add to Cart  
5230
2-Decenoyl carnitine
5 mg $850     Add to Cart  
5228
cis-4-Decenoyl carnitine
5 mg $900     Add to Cart  
D5231
2-Decenoyl N-(methyl-d3)-carnitine
98%D
5 mg $1,500     Add to Cart  
D5229
cis-4-Decenoyl N-(methyl-d3)-carnitine
98%D
5 mg $1,500     Add to Cart  
D5724
Desmosine-d4 inner salt
d0 = 0.02%, d1 = 0.25%, d2 = 5.19%, d3 = 26.11%, d4 = 65.55%, d5
1 mg $725     Add to Cart  
17789
Ethyl trans-4-decenoate
5 g $990     Add to Cart  
5185
Furan-2,5-dicarboxylic Acid
5 mg $1,200     Add to Cart  
5203
2-Furoyl glycine
5 mg $790     Add to Cart  
D5233
Glutaroyl N-(trimethyl-d9)-carnitine
98%D
5 mg $690     Add to Cart  
5232
Glutarylcarnitine
5 mg $1,400     Add to Cart  
D3449
Hexadecanoyl-L-carnitine-d3 HCl (N-methyl-d3)
98%D
0.01 g $780     Add to Cart  
0.05 g $1,695     Add to Cart  
5234
Hexanoyl carnitine
5 mg $850     Add to Cart  
5209
Hexanoyl glycine
5 mg $990     Add to Cart  
D3460
Hexanoyl-L-carnitine-d3 HCl (N-methyl-d3)
99%D
0.01 g $810     Add to Cart  
0.05 g $1,795     Add to Cart  
5170
2-Hydroxyadipic Acid
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5181
4-Hydroxycyclohexylacetic acid
5 mg $1,300     Add to Cart  
5195
3-Hydroxydodecanedioic Acid
5 mg $990     Add to Cart  
25 mg $2,490     Add to Cart  
5190
3-Hydroxydodecanoic acid
25 mg $490     Add to Cart  
5175
3-Hydroxyglutaric Acid
5 mg $890     Add to Cart  
5183
5-Hydroxyhexanoic Acid
    Request Quote  
5177
3-Hydroxyisobutyric Acid
5 mg $190     Add to Cart  
25 mg $390     Add to Cart  
5178
3-Hydroxyisovaleric Acid
5 mg $590     Add to Cart  
50 mg $990     Add to Cart  
5236
Hydroxyisovaleroyl Carnitine
5 mg $1,200     Add to Cart  
D5237
Hydroxyisovaleroyl N-(Trimethyl-d9)-carnitine
98%D
    Request Quote  
5215
4-Hydroxyphenylacetyl glycine
5 mg $125     Add to Cart  
5201
2-Hydroxyphytanic Acid
5 mg $490     Add to Cart  
5179
3-Hydroxypropionic Acid (30% in Water)
5 mg $790     Add to Cart  
5192
2-Hydroxysebacic Acid
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5189
3-Hydroxysebacic Acid
5 mg $1,500     Add to Cart  
5194
3-Hydroxysuberic Acid
5 mg $490     Add to Cart  
25 mg $1,490     Add to Cart  
5196
3-Hydroxytetradecanedioic acid
1 mg $390     Add to Cart  
5 mg $1,250     Add to Cart  
5210
Isobutyroyl glycine
5 mg $790     Add to Cart  
D5239
Isobutyroyl N-(methyl-d3)-Carnitine
98%D
5 mg $1,800     Add to Cart  
5238
Isobutyryl Carnitine
5 mg $950     Add to Cart  
5292
Isovaleric Acid
1 g $550     Add to Cart  
D5241
Isovaleroyl N-(methyl-d3)-Carnitine
98%D
5 mg $1,600     Add to Cart  
5211
N-Isovaleroylglycine
5 mg $250     Add to Cart  
D37876
(-)-Menthol-1,2,6,6-d4
98% D
25 mg $890     Add to Cart  
5212
Metacryloyl glycine
5 mg $790     Add to Cart  
5197
2-Methylacetoacetic acid
    Request Quote  
5219
2-Methylbutyroyl glycine
5 mg $1,500     Add to Cart  
D32092
2-Methylbutyroyl N-(methyl-d3)-carnitine
5 mg $1,800     Add to Cart  
5214
3-Methylcrotonyl Glycine
5 mg $790     Add to Cart  
D32632
N-(3-Methylcrotonyl)glycine-2,2-d2
98%D
10 mg $590     Add to Cart  
5188
2-Methylglutaconic acid
5 mg $1,200     Add to Cart  
5244
2-Methylmalonoyl carnitine
5 mg $960     Add to Cart  
D5245
2-Methylmalonoyl N-(methyl-d3)-carnitine
98%D
5 mg $2,200     Add to Cart  
5204
2-Methylvaleroyl glycine
5 mg $790     Add to Cart  
5246
Myristoyl Carnitine
5 mg $960     Add to Cart  
D5158
Myristoyl-L-Carnitine-d3 HCl (N-methyl-d3)
99%D
0.01 g $815     Add to Cart  
0.05 g $1,815     Add to Cart  
5248
DL-Octanoyl carnitine chloride
1 mg $1,400     Add to Cart  
5 mg $2,500     Add to Cart  
D5157
Octanoyl-L-carnitine-d3 HCl (N-methyl-d3)
98%D
5 mg $750     Add to Cart  
5199
2-Octene-1,8-dioic Acid
5 mg $1,300     Add to Cart  
5171
2-Oxoadipic Acid
5 mg $1,350     Add to Cart  
5200
3-Oxopentanoic Acid
5 mg $950     Add to Cart  
5202
2-Oxophytanic Acid
1 mg     Request Quote  
5193
3-Hydroxy-3-phenylpropionic acid
5 mg $790     Add to Cart  
5220
3-Phenylpropionyl glycine
10 mg $380     Add to Cart  
D281
Propionyl-L-carnitine-d3 HCl (N-methyl-d3)
99%D
0.01 g $780     Add to Cart  
0.05 g $1,695     Add to Cart  
D5159
Stearoyl-L-carnitine-d3 HCl (N-methyl-d3)
99%D
0.01 g $810     Add to Cart  
0.05 g $1,795     Add to Cart  
5191
cis-5-Tetradecenoic Acid
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5217
Tiglyl glycine
5 mg $950     Add to Cart  
5218
Valeroyl glycine
5 mg $1,500     Add to Cart