| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (27.3%) |
30144970 |
A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency. Dai L, Ding C, Fang F. Brain Dev. 2019;41(2):205-209. |
| Irritability Hypertonia Limb hypertonia | ||
| Amino Acid Metabolism, Inborn Errors Aromatic-L-Amino-Acid Decarboxylases Asians China Females Gene Deletion Homo sapiens Infant Male Missense Mutation Sibling | ||
| 2 (17.5%) |
25024584 (4090859) |
Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation. Gucuyener K, Kasapkara CS, Tumer L, Verbeek MM. Ann Indian Acad Neurol. 2014;17(2):234-6. |
| Hypotonia | ||
| DDC | ||
| c|SUB|C|208|T p|SUB|H|70|Y | ||
| 3 (4.0%) |
29851841 |
When dysphoria is not a primary mental state: A case report of the role of the aromatic L-aminoacid decarboxylase. Portaro S, Gugliandolo A, Scionti D, Cammaroto S, Morabito R, Leonardi S, Fraggetta F, Bramanti P, Mazzon E. Medicine (Baltimore). 2018;97(22):e10953. |
| Diplopia | ||
| DDC | ||
| p|SUB|S|250|F;RS#:137853208 | ||
| Adult Amino Acid Metabolism, Inborn Errors Aromatic-L-Amino-Acid Decarboxylases Benzothiazoles Dopamine Agonists Fatal Outcome Females Heterozygote Homo sapiens Magnetic Resonance Imaging Mutation Whole Exome Sequencing | ||
| 3 (4.0%) |
28100326 |
[Feeding difficulty and developmental delay for 8 months and nystagmus for 4 months in an infant]. Zhu J, Yu F. Zhongguo Dang Dai Er Ke Za Zhi. 2017;19(1):68-72. |
| Nystagmus | ||
| c|DUP|1063|A| c|SUB|A|250|C p|FS|I|355|| p|SUB|S|84|R | ||
| Amino Acid Metabolism, Inborn Errors Aromatic-L-Amino-Acid Decarboxylases Developmental Disabilities Feeding and Eating Disorders Homo sapiens Infant Male | ||
| 3 (4.0%) |
27371992 |
A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition. Kojima K, Anzai R, Ohba C, Goto T, Miyauchi A, Thony B, Saitsu H, Matsumoto N, Osaka H, Yamagata T. Brain Dev. 2016;38(10):959-963. |
| Limb dystonia | ||
| DDC MAOB | ||
| p|SUB|P|129|S | ||
| Amino Acid Metabolism, Inborn Errors Aromatic-L-Amino-Acid Decarboxylases Child, Preschool DNA Mutational Analysis Females Homo sapiens Monoamine Oxidase Inhibitors Neuromuscular Agents Nootropic Agents Protein Conformation | ||
| 3 (4.0%) |
24714172 |
A rare cause of severe diarrhoea diagnosed by urine metabolic screening: aromatic L-amino acid decarboxylase deficiency. Lee LK, Cheung KM, Cheng WW, Ko CH, Lee HH, Ching CK, Mak C. Hong Kong Med J. 2014;20(2):161-4. |
| Dehydration | ||
| Amino Acid Metabolism, Inborn Errors Aromatic-L-Amino-Acid Decarboxylases Developmental Disabilities Diarrhea Homo sapiens Male Ocular Motility Disorders Severity of Illness Index | ||
| 3 (4.0%) |
24453523 (3891626) |
Aromatic amino Acid decarboxylase deficiency not responding to pyridoxine and bromocriptine therapy: case report and review of response to treatment. Alfadhel M, Kattan R. J Cent Nerv Syst Dis. 2014;6:1-5. |
| Progressive encephalopathy | ||
| DDC | ||
| 3 (4.0%) |
24037885 |
Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia. Arnoux JB, Damaj L, Napuri S, Serre V, Hubert L, Cadoudal M, Simard G, Ceballos I, Christa L, de Lonlay P. J Clin Endocrinol Metab. 2013;98(11):4279-84. |
| Seizure | ||
| DCC DDC IGF1 | ||
| c|SUB|G|1385|C c|SUB|G|97|C p|SUB|R|462|P p|SUB|V|33|L | ||
| Amino Acid Metabolism, Inborn Errors Aromatic-L-Amino-Acid Decarboxylases Blood Glucose Child, Preschool Fasting Females Homeostasis Homo sapiens Hypoglycemia | ||
| 3 (4.0%) |
21963339 |
Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study. Lee HC, Lai CK, Yau KC, Siu TS, Mak CM, Yuen YP, Chan KY, Tam S, Lam CW, Chan AY. Clin Chim Acta. 2012;413(1-2):126-30. |
| Dystonia | ||
| DDC | ||
| Amino Acid Metabolism, Inborn Errors Aromatic-L-Amino-Acid Decarboxylases Gas Chromatography-Mass Spectrometry Homo sapiens Hong Kong Infant Male Pilot Projects | ||
| 3 (4.0%) |
19520530 |
Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency. Ide S, Sasaki M, Kato M, Shiihara T, Kinoshita S, Takahashi JY, Goto Y. Brain Dev. 2010;32(6):506-10. |
| Oculogyric crisis | ||
| DDC | ||
| Amino Acid Metabolism, Inborn Errors Aromatic-L-Amino-Acid Decarboxylases Basal Ganglia Brain Brain Diseases, Metabolic, Inborn Child, Preschool DNA Mutational Analysis Developmental Disabilities Dystonia Females Homo sapiens Infant Japan Magnetic Resonance Imaging Male Point Mutation Positron-Emission Tomography Prefrontal Cortex Sibling |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 10
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001250 | Seizures | 1 |
| HP:0001263 | Global developmental delay | 1 |
| HP:0002615 | Hypotension | 1 |
| HP:0003162 | Fasting hypoglycemia | 1 |
| HP:0004305 | Involuntary movements | 1 |
| HP:0010553 | Oculogyric crisis | 1 |
| HP:0010818 | Generalized tonic seizures | 1 |
| HP:0011097 | Epileptic spasms | 1 |
| HP:0011675 | Arrhythmia | 1 |
| HP:0200134 | Epileptic encephalopathy | 1 |