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Table 1 Suggested applications of SAA supplements in different aminoacidopathies

From: Single amino acid supplementation in aminoacidopathies: a systematic review

Disorder

Treatment objective

Level of evidence

 

A

B

C

IVA

 

Glycine

 

4-5

 

MMA

Isoleucine + Valine

  

5

 

PA

 

Glycine

 

5

 
 

Isoleucine + Valine

  

5

 

GA-I

  

Arginine

3b

animal

   

Homoarginine

-

animal

   

Ornithine

-

animal

MSUD

  

Isoleucine + Valine

-

 
   

Norleucine

-

animal

 

Isoleucine + Valine

  

4-5

 

PKU

 

Glutamine

 

5

 
  

Glutamate

 

5

 
  

Asparagine

 

5

 
  

Threonine

 

3b

 
   

MAIB

-

animal

   

AIB

-

animal

   

NB

-

animal

   

Norleucine

-

animal

 

Tryptophan

  

4

 
 

Glutamine

  

4

 

HT1

Phenylalanine

  

4

 

OAT deficiency

 

Lysine

 

4

 
 

Proline

  

4

 

GAMT deficiency

 

Ornithine

Ornithine

5

 

HCU

  

Arginine

5

 
  

Cysteine

 

-

 
 

Arginine*

Arginine*

Arginine*

1b

 
  1. Therapeutic objective A) correction of amino acid deficiency; B) prevention of toxic accumulation of specific substrates prior to the metabolic block; C) competition with toxic agents for entry into target organs.
  2. MAIB: N-methyl-aminoisobutyrate; AIB: 2-aminoisobutyrate; NB: 2-aminonorbornane
  3. *Treatment objective is unclear.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172