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Disorder of amino acid metabolism

MedGen UID:
1867
•Concept ID:
C0002514
•
Disease or Syndrome
Synonyms: Amino acid metabolism, inborn errors; Disorders of amino acid transport and metabolism; Inborn amino acid metabolism disorder; Inborn disorder of amino acid metabolism; Inherited amino acid metabolic disorder
SNOMED CT: Disorders of amino acid transport and metabolism (190680002); Inborn error of amino acid metabolism (42930003); Hyperaminoaciduria (42930003); Disorder of amino acid metabolism (44779003); Amino acidopathy (44779003); Amino acid disorder (44779003)
 
Related genes: QDPR, PAH, FAH, DBT, BCKDHB, BCKDHA, ASS1, ASL
 
Monarch Initiative: MONDO:0004736

Definition

An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. [from NCI]

Term Hierarchy

Professional guidelines

PubMed

Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review.
Geppert J, Stinton C, Freeman K, Fraser H, Clarke A, Johnson S, Sutcliffe P, Taylor-Phillips S
Orphanet J Rare Dis 2017 Sep 11;12(1):154. doi: 10.1186/s13023-017-0696-z. PMID: 28893311Free PMC Article
Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.
Stinton C, Geppert J, Freeman K, Clarke A, Johnson S, Fraser H, Sutcliffe P, Taylor-Phillips S
Orphanet J Rare Dis 2017 Mar 9;12(1):48. doi: 10.1186/s13023-017-0599-z. PMID: 28274233Free PMC Article
Management of phenylketonuria and hyperphenylalaninemia.
de Baulny HO, Abadie V, Feillet F, de Parscau L
J Nutr 2007 Jun;137(6 Suppl 1):1561S-1563S; discussion 1573S-1575S. doi: 10.1093/jn/137.6.1561S. PMID: 17513425

Recent clinical studies

Etiology

Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review.
Geppert J, Stinton C, Freeman K, Fraser H, Clarke A, Johnson S, Sutcliffe P, Taylor-Phillips S
Orphanet J Rare Dis 2017 Sep 11;12(1):154. doi: 10.1186/s13023-017-0696-z. PMID: 28893311Free PMC Article
The oxidative molecular regulation mechanism of NOX in children with phenylketonuria.
He YZ, Gu XF, Lu LH, Liang LL
Int J Dev Neurosci 2014 Nov;38:178-83. Epub 2014 Sep 29 doi: 10.1016/j.ijdevneu.2014.09.002. PMID: 25256805
Quality of life in children treated with restrictive diet for inherited metabolic disease.
Eminoglu TF, Soysal SA, Tumer L, Okur I, Hasanoglu A
Pediatr Int 2013 Aug;55(4):428-33. Epub 2013 May 30 doi: 10.1111/ped.12089. PMID: 23461789
Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I.
Koeller DM, Woontner M, Crnic LS, Kleinschmidt-DeMasters B, Stephens J, Hunt EL, Goodman SI
Hum Mol Genet 2002 Feb 15;11(4):347-57. doi: 10.1093/hmg/11.4.347. PMID: 11854167
Amino acid concentrations in cerebrospinal fluid and serum in Alzheimer's disease and vascular dementia.
Martinez M, Frank A, Diez-Tejedor E, Hernanz A
J Neural Transm Park Dis Dement Sect 1993;6(1):1-9. doi: 10.1007/BF02252617. PMID: 8216758

Diagnosis

Homogentisic Acid-Based Whole-Cell Biosensor for Detection of Alkaptonuria Disease.
Dhyani R, Shankar K, Bhatt A, Jain S, Hussain A, Navani NK
Anal Chem 2021 Mar 16;93(10):4521-4527. Epub 2021 Mar 3 doi: 10.1021/acs.analchem.0c04914. PMID: 33655752
Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review.
Geppert J, Stinton C, Freeman K, Fraser H, Clarke A, Johnson S, Sutcliffe P, Taylor-Phillips S
Orphanet J Rare Dis 2017 Sep 11;12(1):154. doi: 10.1186/s13023-017-0696-z. PMID: 28893311Free PMC Article
Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.
Stinton C, Geppert J, Freeman K, Clarke A, Johnson S, Fraser H, Sutcliffe P, Taylor-Phillips S
Orphanet J Rare Dis 2017 Mar 9;12(1):48. doi: 10.1186/s13023-017-0599-z. PMID: 28274233Free PMC Article
Management of phenylketonuria and hyperphenylalaninemia.
de Baulny HO, Abadie V, Feillet F, de Parscau L
J Nutr 2007 Jun;137(6 Suppl 1):1561S-1563S; discussion 1573S-1575S. doi: 10.1093/jn/137.6.1561S. PMID: 17513425
Neurological aspects of adult phenylketonuria.
Pietz J
Curr Opin Neurol 1998 Dec;11(6):679-88. doi: 10.1097/00019052-199812000-00012. PMID: 9870137

Therapy

Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review.
Geppert J, Stinton C, Freeman K, Fraser H, Clarke A, Johnson S, Sutcliffe P, Taylor-Phillips S
Orphanet J Rare Dis 2017 Sep 11;12(1):154. doi: 10.1186/s13023-017-0696-z. PMID: 28893311Free PMC Article
Valproate-induced chorea and encephalopathy in atypical nonketotic hyperglycinemia.
Morrison PF, Sankar R, Shields WD
Pediatr Neurol 2006 Nov;35(5):356-8. doi: 10.1016/j.pediatrneurol.2006.06.009. PMID: 17074608
Interhemispheric transfer in children with early-treated phenylketonuria.
Gourovitch ML, Craft S, Dowton SB, Ambrose P, Sparta S
J Clin Exp Neuropsychol 1994 Jun;16(3):393-404. doi: 10.1080/01688639408402650. PMID: 7929707

Prognosis

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.
Zhou J, Zeng Y, Qiu X, Lin Q, Chen W, Luo J, Xu L
Mol Biol Rep 2022 Nov;49(11):10409-10419. Epub 2022 Sep 14 doi: 10.1007/s11033-022-07579-8. PMID: 36104584Free PMC Article
Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.
Stinton C, Geppert J, Freeman K, Clarke A, Johnson S, Fraser H, Sutcliffe P, Taylor-Phillips S
Orphanet J Rare Dis 2017 Mar 9;12(1):48. doi: 10.1186/s13023-017-0599-z. PMID: 28274233Free PMC Article
Quality of life in children treated with restrictive diet for inherited metabolic disease.
Eminoglu TF, Soysal SA, Tumer L, Okur I, Hasanoglu A
Pediatr Int 2013 Aug;55(4):428-33. Epub 2013 May 30 doi: 10.1111/ped.12089. PMID: 23461789
Newborn screening--is it really that simple?
Wiley V, Carpenter K, Bayliss U, Wilcken B
Southeast Asian J Trop Med Public Health 2003;34 Suppl 3:107-10. PMID: 15906711
Neurological aspects of adult phenylketonuria.
Pietz J
Curr Opin Neurol 1998 Dec;11(6):679-88. doi: 10.1097/00019052-199812000-00012. PMID: 9870137

Clinical prediction guides

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.
Zhou J, Zeng Y, Qiu X, Lin Q, Chen W, Luo J, Xu L
Mol Biol Rep 2022 Nov;49(11):10409-10419. Epub 2022 Sep 14 doi: 10.1007/s11033-022-07579-8. PMID: 36104584Free PMC Article
Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review.
Geppert J, Stinton C, Freeman K, Fraser H, Clarke A, Johnson S, Sutcliffe P, Taylor-Phillips S
Orphanet J Rare Dis 2017 Sep 11;12(1):154. doi: 10.1186/s13023-017-0696-z. PMID: 28893311Free PMC Article
Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.
Stinton C, Geppert J, Freeman K, Clarke A, Johnson S, Fraser H, Sutcliffe P, Taylor-Phillips S
Orphanet J Rare Dis 2017 Mar 9;12(1):48. doi: 10.1186/s13023-017-0599-z. PMID: 28274233Free PMC Article
The oxidative molecular regulation mechanism of NOX in children with phenylketonuria.
He YZ, Gu XF, Lu LH, Liang LL
Int J Dev Neurosci 2014 Nov;38:178-83. Epub 2014 Sep 29 doi: 10.1016/j.ijdevneu.2014.09.002. PMID: 25256805
Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I.
Koeller DM, Woontner M, Crnic LS, Kleinschmidt-DeMasters B, Stephens J, Hunt EL, Goodman SI
Hum Mol Genet 2002 Feb 15;11(4):347-57. doi: 10.1093/hmg/11.4.347. PMID: 11854167

Recent systematic reviews

Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review.
Geppert J, Stinton C, Freeman K, Fraser H, Clarke A, Johnson S, Sutcliffe P, Taylor-Phillips S
Orphanet J Rare Dis 2017 Sep 11;12(1):154. doi: 10.1186/s13023-017-0696-z. PMID: 28893311Free PMC Article
Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.
Stinton C, Geppert J, Freeman K, Clarke A, Johnson S, Fraser H, Sutcliffe P, Taylor-Phillips S
Orphanet J Rare Dis 2017 Mar 9;12(1):48. doi: 10.1186/s13023-017-0599-z. PMID: 28274233Free PMC Article

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