Table 3.
Hereditary aminoacidurias
| Disorder | Defective gene | Locus | Amino acid transport system defective | Individual amino acids affected | Localization of defect | Mode of inheritance | Prevalence | Clinical manifestations | Organs involved | OMIM no.a |
|---|---|---|---|---|---|---|---|---|---|---|
| I. Cationic Aminoaciduria | ||||||||||
| 1. Classic cys- tinuria | ||||||||||
| Type I | SLC3A1 | 2p16.3 | rBAT (heavy subunit of b0,+) | Cystine, lysine, arginine, ornithine | BBM | AR | 1:7000–1:15000 | Urolithiasis | Kidney, intestine | 220100 |
| Non-type I | SLC7A9 | 19q13.1 | b0,+AT (light subunit of b0,+) | BBM | AD (incomplete penetrance) | 600918 | ||||
| 2. Isolated cystinuria | SLC7A9 | 19q13.1 | Cystine | Cystine | BBM | AR | 2 siblings reported | Benign | Kidney | 238200 |
| 3. Hyperdibasic aminoaciduria Type I | Dibasic amino acids | Lysine, arginine, ornithine | BBM | AD | 2 families reported | Mental retardation | Kidney, intestine | 222690 | ||
| 4. Lysinuric protein intolerance (Hyperdibasic aminoaciduria Type II) | SLC7A7 | 14q11 | y+LAT-1 (light subunit of y+L) | Lysine, arginine, ornithine | BLM | AR | 1:60,000 (Finland) | Protein malnutrition, failure to thrive, hyperammonemia, seizures, coma | Kidney, intestine, lungs, bones | 222700 |
| 5. Isolated lysinuria | Lysine (?) | Lysine | BBM (?) | AR | 1 patient reported | Failure to thrive, seizures, mental retardation | Kidney, intestine | |||
| II. Neutral Aminoaciduria | ||||||||||
| 1. Hartnup Disease | SLC6A19 | 5p15.33 | B0(neutral, monoamino monocarboxylic α-amino acids) | Alanine, serine, threonine, valine leucine, isoleucine, phenylalanine tyrosine, tryptophan, histidine, glutamine, asparagine | BBM | AR | 1:20,000 | Skin rash, cerebellar ataxia, psychiatric illnesses | Kidney, intestine | 234500 |
| 2. Methioninuria | Methionine | Methionine | BBM | AR | 2 cases reported | Edema, seizures, mental retardation | Kidney, intestine | 250900 | ||
| 3. Histidinuria | Histidine | Histidine | BBM | AR | 4 cases reports | Mental retardation | Kidney, intestine | 235830 | ||
| III. Iminoaciduria & Glycinuria | ||||||||||
| 1. Imino-glycinuria | SLC36A2 (PAT2) | 5q33.1 | Imino acids, and glycine | Proline, hydroxy-proline, glycine | BBM | AR | 1:15,000 | Benign | Kidney, intestine | 242600 |
| SLC6A20 (IMINO) | 3p21.3 | |||||||||
| 2. Isolated glycinuria | SLC6A18 (XT2) (?) | 5p15.33 | Glycine | Glycine | BBM | AD | 2 families reported | Benign | Kidney | 138500 |
| IV. Dicarboxylic Aminoaciduria | SLC1A1 (EAAT3) | 9q24 | X− AG (acidic amino acids) | Glutamate, aspartate | BBM | AR | 1:29,000 (French- Canadian) | Benign | Kidney, intestine | 222730 |
| V. β-amino-aciduria (mouse) | β-amino acids | Taurine | BLM (?) | AR | Benign | Kidney | ||||
BBM brush border membrane; BLM basolateral membrane; AR autosomal recessive; AD autosomal dominant
aOnline Mendelian Inheritance in Man (database at http://www.ncbi.nlm.nih.gov/omim)