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Type A Cystinuria

Also Known As:

Cystinuria, Type A; Cystinuria, Type A-B; Cystinuria, Type B

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Muscle Weakness
2.	Kidney Diseases (Kidney Disease)

Experts

1.	Beckermann, Thomas M: 1 article (01/2020)
2.	Ikizler, Talat A: 1 article (01/2020)
3.	Mortlock, Douglas P: 1 article (01/2020)
4.	Sha, Feng: 1 article (01/2020)
5.	Welch, Richard C: 1 article (01/2020)
6.	Williams, Felisha M: 1 article (01/2020)
7.	Wilson, Matthew H: 1 article (01/2020)
8.	Woodard, Lauren E: 1 article (01/2020)
9.	Bultitude, Matthew: 1 article (07/2015)
10.	Flinter, Frances: 1 article (07/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type A Cystinuria:

1.	Cystine (L-Cystine)IBA 01/01/2020 - "Cystinuria Type A is a relatively common genetic kidney disease occurring in 1 in 7,000 people worldwide that results from mutation of the cystine transporter rBAT encoded by Slc3a1. " 09/01/2003 - "Mutations in SLC7A9, encoding b0,+AT, cause cystinuria type B, in which heterozygotes in most cases hyperexcrete cystine and dibasic amino acids (phenotype non-I). "
2.	Growth Hormone (Somatotropin)IBA 04/08/2014 - "The major clinical features of HCS are type A cystinuria, growth hormone deficiency, muscle weakness, ptosis, and feeding problems. "
3.	OrnithineIBA 07/01/2015 - "In patients with type A cystinuria, the presence of a missense mutation correlated to lower levels of urinary lysine (mean [SE] 611.9 [22.65] vs 752.3 [46.39] millimoles per mole of creatinine [mM/MC]; P=0.02), arginine (194.8 [24.83] vs 397.7 [15.32] mM/MC; P<0.001) and ornithine (109.2 [7.40] vs 146.6 [12.7] mM/MC; P=0.02). "
4.	Lysine (L-Lysine)FDA Link 07/01/2015 - "In patients with type A cystinuria, the presence of a missense mutation correlated to lower levels of urinary lysine (mean [SE] 611.9 [22.65] vs 752.3 [46.39] millimoles per mole of creatinine [mM/MC]; P=0.02), arginine (194.8 [24.83] vs 397.7 [15.32] mM/MC; P<0.001) and ornithine (109.2 [7.40] vs 146.6 [12.7] mM/MC; P=0.02). "
5.	CreatinineIBA 07/01/2015 - "In patients with type A cystinuria, the presence of a missense mutation correlated to lower levels of urinary lysine (mean [SE] 611.9 [22.65] vs 752.3 [46.39] millimoles per mole of creatinine [mM/MC]; P=0.02), arginine (194.8 [24.83] vs 397.7 [15.32] mM/MC; P<0.001) and ornithine (109.2 [7.40] vs 146.6 [12.7] mM/MC; P=0.02). "
6.	Arginine (L-Arginine)FDA Link 07/01/2015 - "In patients with type A cystinuria, the presence of a missense mutation correlated to lower levels of urinary lysine (mean [SE] 611.9 [22.65] vs 752.3 [46.39] millimoles per mole of creatinine [mM/MC]; P=0.02), arginine (194.8 [24.83] vs 397.7 [15.32] mM/MC; P<0.001) and ornithine (109.2 [7.40] vs 146.6 [12.7] mM/MC; P=0.02). "
7.	Diamino Amino AcidsIBA 09/01/2003 - "Mutations in SLC7A9, encoding b0,+AT, cause cystinuria type B, in which heterozygotes in most cases hyperexcrete cystine and dibasic amino acids (phenotype non-I). "