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Disorder of amino acid metabolism

MedGen UID:
1857273
•Concept ID:
C5886841
•
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: 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 MONDO]

Term Hierarchy

Professional guidelines

PubMed

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

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
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
Cloning, structure, and chromosome localization of the mouse glutaryl-CoA dehydrogenase gene.
Koeller DM, DiGiulio KA, Angeloni SV, Dowler LL, Frerman FE, White RA, Goodman SI
Genomics 1995 Aug 10;28(3):508-12. doi: 10.1006/geno.1995.1182. PMID: 7490088
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
Transcription factor-based biosensor for detection of phenylalanine and tyrosine in urine for diagnosis of phenylketonuria.
Lin C, Jair YC, Chou YC, Chen PS, Yeh YC
Anal Chim Acta 2018 Dec 24;1041:108-113. Epub 2018 Aug 29 doi: 10.1016/j.aca.2018.08.053. PMID: 30340682
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
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
Black hip: a rare case treated by total hip replacement.
Gowda N, Kumar MJ, Kumar AK
Ann Saudi Med 2013 Jul-Aug;33(4):368-71. doi: 10.5144/0256-4947.2013.368. PMID: 24060716Free 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
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

The gut microbiota-produced vitamin B6 mitigates alcohol-associated liver disease by attenuating hepatic oxidative stress damage.
Shen H, Zhou L, Yang Y, Shu H, Wu D, Yang S, Xie L, Yang L, Tian S, Zhang X, Ma R, Jiang L, Jiang M, Zhang H, Wang Y, Zhang H, Gao S, Xu L, Wang H
Hepatol Commun 2025 Jan 1;9(1) Epub 2024 Dec 11 doi: 10.1097/HC9.0000000000000599. PMID: 39670862Free PMC Article
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
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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