Abnormality of amino acid metabolism

Symptom Information:

Symptom ID: HPO:0004337
Synonyms:
Amino acid levels abnormal [HPO:0004337]
Aminoacid metabolism disorder [Orphanet:49360]
Disorders of amino acid transport and metabolism (disorder) [Orphanet:49360]
Inborn error of amino acid metabolism (disorder) [Orphanet:49360]
Disorder of amino acid metabolism (disorder) [Orphanet:49360]
Amino Acid Metabolism, Inborn Errors [Orphanet:49360]
Aminoacid metabolism anomalies/aminoaciduria [Orphanet:49360]
Amino acid metabolism disorder [Orphanet:49360]
Amino acid metabolism disorder [MedDRA:10001938]
Disorders of amino-acid transport and metabolism [MedDRA:10001938]
Disorders of urea cycle metabolism [MedDRA:10001938]
Disturbances of amino-acid transport [MedDRA:10001938]
Disturbances of branched-chain amino-acid metabolism [MedDRA:10001938]
Disturbances of histidine metabolism [MedDRA:10001938]
Disturbances of sulphur-bearing amino-acid metabolism [MedDRA:10001938]
Other disturbances of aromatic amino-acid metabolism [MedDRA:10001938]
Other disturbances of straight-chain amino-acid metabolism [MedDRA:10001938]
Other specified disorders of amino-acid metabolism [MedDRA:10001938]
Other specified disorders of amino-acid transport and metabolism [MedDRA:10001938]
Unspecified disorder of amino-acid metabolism [MedDRA:10001938]
Unspecified disorder of amino-acid transport and metabolism [MedDRA:10001938]
Inborn errors of amino acid metabolism [MedDRA:10021602]
Amino acid level abnormal [MedDRA:10063262]
Quality:
Cross references:
Orphanet:49360 "Aminoacid metabolism anomalies/aminoaciduria" [Orphanet:49360]
UMLS:C0002514 "Amino Acid Metabolism, Inborn Errors" [Orphanet:49360]
Is a (Direct Parents):
MedDRA Protein analyses NEC
HPO         Abnormality of carboxylic acid metabolism
Orphanet Aminoaciduria
Orphanet Abnormality of metabolism/homeostasis
MedDRA Amino acid metabolism disorders NEC
MedDRA Metabolic and nutritional disorders congenital
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of carboxylic acid metabolism(HPO:0004354)
             Abnormality of amino acid metabolism(HPO:0004337)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Metabolic and nutritional disorders congenital(MedDRA:10027424)
       Abnormality of amino acid metabolism(HPO:0004337)
Investigations(MedDRA:10022891)
    Protein and chemistry analyses NEC(MedDRA:10037000)
       Protein analyses NEC(MedDRA:10036998)
          Abnormality of amino acid metabolism(HPO:0004337)
Metabolism and nutrition disorders(MedDRA:10027433)
    Protein and amino acid metabolism disorders NEC(MedDRA:10037008)
       Amino acid metabolism disorders NEC(MedDRA:10036999)
          Abnormality of amino acid metabolism(HPO:0004337)
Database Frequency: 45 / 7739
Resource:

All diseases associated with this symptom:

2p21 microdeletion syndrome (Orphanet:163693)
3-hydroxyisobutyric aciduria (Orphanet:939)
Alkaptonuria (Orphanet:56)
Argininemia (Orphanet:90)
Argininosuccinic aciduria (Orphanet:23)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Camptodactyly - taurinuria (Orphanet:1325)
Carbamoylphosphate synthetase deficiency (Orphanet:147)
Carnosinemia (Orphanet:1361)
Classical phenylketonuria (Orphanet:79254)
Cystinosis (Orphanet:213)
Cystinuria (Orphanet:214)
Deafness - onychodystrophy (Orphanet:3231)
Encephalopathy due to sulfite oxidase deficiency (Orphanet:833)
GRACILE syndrome (Orphanet:53693)
Galactose epimerase deficiency (Orphanet:79238)
Hartnup syndrome (Orphanet:2116)
Hereditary orotic aciduria (Orphanet:30)
Histidinuria - renal tubular defect (Orphanet:2158)
Hydrocephalus - blue sclerae - nephropathy (Orphanet:2186)
Hyperprolinemia type 1 (Orphanet:419)
Hypotonia - cystinuria syndrome (Orphanet:163690)
Ichthyosis - intellectual deficit - dwarfism - renal impairment (Orphanet:2278)
Intellectual deficit, X-linked, Armfield type (Orphanet:85276)
Isovaleric acidemia (Orphanet:33)
Maple syrup urine disease (Orphanet:511)
Methylcobalamin deficiency type cblE (Orphanet:2169)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Myalgia-eosinophilia syndrome associated with tryptophan (Orphanet:2582)
Neonatal intrahepatic cholestasis due to citrin deficiency (Orphanet:247598)
Neonatal severe primary hyperparathyroidism (Orphanet:417)
Netherton syndrome (Orphanet:634)
Oculocerebrorenal syndrome (Orphanet:534)
Ornithine transcarbamylase deficiency (Orphanet:664)
Peeling skin syndrome (Orphanet:817)
Pellagra-like skin rash-neurological manifestations (Orphanet:2837)
Phenylketonuria (Orphanet:716)
Propionic acidemia (Orphanet:35)
Pyruvate dehydrogenase E3 deficiency (Orphanet:2394)
Seizures - intellectual deficit due to hydroxylysinuria (Orphanet:79156)
Sialidosis type 1 (Orphanet:812)
Stimmler syndrome (Orphanet:3199)
Tyrosinemia type 1 (Orphanet:882)
Tyrosinemia type 2 (Orphanet:28378)
Xeroderma pigmentosum (Orphanet:910)