AMINO ACID DISORDER - Encyclopedia Information

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(Redirected from Amino acid disorder)

Amino acid transport disorder
Specialty	Nephrology

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.

References

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.

Inborn error of amino acid metabolism

K→ acetyl-CoA

Lysine/straight chain	Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria
Leucine	3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease
Tryptophan	Hypertryptophanemia

G

G→ pyruvate→ citrate

Glycine	D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia 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	Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease
Isoleucine	2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease
Methionine	Cystathioninuria Homocystinuria Hypermethioninemia
General BC/ OA	Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia

Phenylalanine/ tyrosine

Phenylketonuria	6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency
Tyrosinemia	Alkaptonuria/ Ochronosis Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III/ Hawkinsinuria
Tyrosine→ Melanin	Albinism: Ocular albinism ( 1) Oculocutaneous albinism ( Hermansky–Pudlak syndrome) Waardenburg syndrome
Tyrosine→ Norepinephrine	Dopamine beta hydroxylase deficiency reverse: Brunner syndrome

G→ oxaloacetate

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

Transport/
IE of RTT

Other

This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Wikipedia by expanding it.

Retrieved from " https://en.wikipedia.org/?title=Amino_acid_transport_disorder&oldid=1151758115"

Hidden categories:

From Wikipedia, the free encyclopedia

(Redirected from Amino acid disorder)

Amino acid transport disorder
Specialty	Nephrology

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.

References

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.

Inborn error of amino acid metabolism

K→ acetyl-CoA

Lysine/straight chain	Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria
Leucine	3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease
Tryptophan	Hypertryptophanemia

G

G→ pyruvate→ citrate

Glycine	D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia 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	Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease
Isoleucine	2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease
Methionine	Cystathioninuria Homocystinuria Hypermethioninemia
General BC/ OA	Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia

Phenylalanine/ tyrosine

Phenylketonuria	6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency
Tyrosinemia	Alkaptonuria/ Ochronosis Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III/ Hawkinsinuria
Tyrosine→ Melanin	Albinism: Ocular albinism ( 1) Oculocutaneous albinism ( Hermansky–Pudlak syndrome) Waardenburg syndrome
Tyrosine→ Norepinephrine	Dopamine beta hydroxylase deficiency reverse: Brunner syndrome

G→ oxaloacetate

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

Transport/
IE of RTT

Other

This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Wikipedia by expanding it.

Retrieved from " https://en.wikipedia.org/?title=Amino_acid_transport_disorder&oldid=1151758115"

Hidden categories:

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