Amino acid transport disorder

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Amino acid transport disorder
Classification and external resources
ICD-10	E 72.0
ICD-9	270
MeSH	D020157

Amino acid transport disorders are medical conditions associated with a failure of amino acids to be absorbed from the kidney or intestine.

An example is Hartnup disease.

External links

Milne MD (1971). "Disorders of intestinal amino-acid transport". J Clin Pathol 5 (Suppl): 41–4. doi:10.1136/jcp.s3-5.1.41. PMC 1176258. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1176258.

Inborn error of amino acid metabolism (E70–E72, 270)

K→acetyl-CoA

Lysine/straight chain	Glutaric acidemia type 1 · type 2 · Hyperlysinemia · Pipecolic acidemia · Saccharopinuria

Leucine	Maple syrup urine disease · Isovaleric acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA lyase deficiency · 3-Methylglutaconic aciduria 1

Tryptophan	Hypertryptophanemia

G→pyruvate→citrate

Glycine

Sarcosinemia · D-Glyceric acidemia · Glutathione synthetase deficiency

Glycine→Creatine: GAMT deficiency · Glycine encephalopathy

G→glutamate→
α-ketoglutarate

Histidine	Carnosinemia · Histidinemia · Urocanic aciduria

Proline	Hyperprolinemia · Prolidase deficiency

Glutamate/glutamine	SSADHD

G→propionyl-CoA→
succinyl-CoA

Valine	Maple syrup urine disease · Hypervalinemia · Isobutyryl-CoA dehydrogenase deficiency

Isoleucine	Maple syrup urine disease · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency

Methionine	Hypermethioninemia · Homocystinuria · Cystathioninuria

General BC/OA	Propionic acidemia · Methylmalonic acidemia · Methylmalonyl-CoA mutase deficiency

G→fumarate

G→oxaloacetate


Urea cycle/Hyperammonemia (arginine, aspartate)	N-Acetylglutamate synthase deficiency · Carbamoyl phosphate synthetase I deficiency · Ornithine transcarbamylase deficiency/translocase deficiency · Citrullinemia · Argininosuccinic aciduria · Argininemia

Transport/
IE of RTT

Solute carrier family: Cystinuria · Hartnup disease · Lysinuric protein intolerance · Iminoglycinuria

Fanconi syndrome: Oculocerebrorenal syndrome · Cystinosis

Other

Trimethylaminuria · 2-Hydroxyglutaric aciduria · Fumarase deficiency

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

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