Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia

Keyphrases

• Hereditary Spastic Paraplegia 100%
• Compound Heterozygous mutation 100%
• Amino Acid Content 100%
• ALDH18A1 100%
• Δ1-pyrroline-5-carboxylate Synthetase 75%
• Glutamate 50%
• Autosomal Recessive 50%
• Proline 50%
• Arginine 50%
• Plasma Parameters 25%
• Male Patients 25%
• Autosomal Dominant 25%
• Young Men 25%
• Kinase Domain 25%
• Young Males 25%
• Temporal Lobe Epilepsy 25%
• Plasma Amino Acids 25%
• Cutis Laxa 25%
• Citrulline 25%
• Two-component Domains 25%
• Ornithine 25%
• Pyrrolines 25%
• Autosomal Dominant Cutis Laxa 25%
• γ-glutamyl Phosphate Reductase 25%

Biochemistry, Genetics and Molecular Biology

• Amino Acids 100%
• Autosomal Recessive Inheritance 100%
• Phosphotransferase 66%
• Kinase 66%
• Arginine 66%
• Proline 66%
• Blood Level 33%
• Compound Heterozygosity 33%
• Oxidoreductase 33%
• Reductase 33%
• Amino Acid Blood Level 33%
• Citrulline 33%
• Ornithine 33%