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Conference Paper: Urine Organic Acid (UOA) Analysis for the diagnosis of Aromatic L-Amino Acid Decarboxylase (AADC) deficiency
Title | Urine Organic Acid (UOA) Analysis for the diagnosis of Aromatic L-Amino Acid Decarboxylase (AADC) deficiency |
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Authors | |
Issue Date | 2020 |
Publisher | Elsevier B.V. on behalf of Royal College of Pathologists of Australasia. The Journal's web site is located at https://www.pathologyjournal.rcpa.edu.au/ |
Citation | Pathology Update 2020 Conference: Cracking the Code, Sydney, Australia, 20-22 March 2020. In Pathology, 2020, v. 52 n. Suppl. 1, p. S107 How to Cite? |
Abstract | We describe the use of urine organic acid (UOA) analysis for the diagnosis of a CSF neurotransmitter defect, aromatic L-amino acid decarboxylase (AADC) deficiency in a 3-month-old boy. The patient presented with upper limbs spasm and abnormal eye movement. UOA was initiated for possible inborn errors of metabolism (IEM). Hyper-excretion of urine vanillactic acid (VLA) and N-acetyl-vanilalanine was detected in UOA which the pattern is pathognomonic to AADC deficiency. The diagnosis was subsequently confirmed by analysing the hotspot pathogenic variant in the DDC gene, i.e., IVS6+4A>T in <2 days. A CSF neurotransmitter profile was requested by the clinician and showed a classical pattern of AADC deficiency with markedly elevated 3-O-methyldopa of 2895 nmol/L (RI <300) and very low levels of 5-HIAA (<17 nmol/L; RI 114–335) and HVA (<67 nmol/L; RI 295–932). Because CSF sampling can be technically challenging and is also invasive, our case illustrates the potential of using non-invasive UOA to replace CSF neurotransmitter for the diagnosis of AADC. This is particularly useful clinically if sampling of CSF is practically infeasible. In conclusion, UOA is a simple and non-invasive test for AADC deficiency, and substantiate the previous work reported by Lee et al.1.
Reference:
1. Lee HC, Lai CK, Yau KC, et al. Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study. Clin Chim Acta 2012; 413: 126–30. |
Description | conference abstract |
Persistent Identifier | http://hdl.handle.net/10722/293871 |
ISSN | 2023 Impact Factor: 3.6 2023 SCImago Journal Rankings: 0.919 |
DC Field | Value | Language |
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dc.contributor.author | Law, CW | - |
dc.contributor.author | Ling, TK | - |
dc.contributor.author | Wong, KC | - |
dc.contributor.author | Lam, CW | - |
dc.date.accessioned | 2020-11-23T08:23:00Z | - |
dc.date.available | 2020-11-23T08:23:00Z | - |
dc.date.issued | 2020 | - |
dc.identifier.citation | Pathology Update 2020 Conference: Cracking the Code, Sydney, Australia, 20-22 March 2020. In Pathology, 2020, v. 52 n. Suppl. 1, p. S107 | - |
dc.identifier.issn | 0031-3025 | - |
dc.identifier.uri | http://hdl.handle.net/10722/293871 | - |
dc.description | conference abstract | - |
dc.description.abstract | We describe the use of urine organic acid (UOA) analysis for the diagnosis of a CSF neurotransmitter defect, aromatic L-amino acid decarboxylase (AADC) deficiency in a 3-month-old boy. The patient presented with upper limbs spasm and abnormal eye movement. UOA was initiated for possible inborn errors of metabolism (IEM). Hyper-excretion of urine vanillactic acid (VLA) and N-acetyl-vanilalanine was detected in UOA which the pattern is pathognomonic to AADC deficiency. The diagnosis was subsequently confirmed by analysing the hotspot pathogenic variant in the DDC gene, i.e., IVS6+4A>T in <2 days. A CSF neurotransmitter profile was requested by the clinician and showed a classical pattern of AADC deficiency with markedly elevated 3-O-methyldopa of 2895 nmol/L (RI <300) and very low levels of 5-HIAA (<17 nmol/L; RI 114–335) and HVA (<67 nmol/L; RI 295–932). Because CSF sampling can be technically challenging and is also invasive, our case illustrates the potential of using non-invasive UOA to replace CSF neurotransmitter for the diagnosis of AADC. This is particularly useful clinically if sampling of CSF is practically infeasible. In conclusion, UOA is a simple and non-invasive test for AADC deficiency, and substantiate the previous work reported by Lee et al.1. Reference: 1. Lee HC, Lai CK, Yau KC, et al. Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study. Clin Chim Acta 2012; 413: 126–30. | - |
dc.language | eng | - |
dc.publisher | Elsevier B.V. on behalf of Royal College of Pathologists of Australasia. The Journal's web site is located at https://www.pathologyjournal.rcpa.edu.au/ | - |
dc.relation.ispartof | Pathology | - |
dc.relation.ispartof | Pathology Update 2020 Conference: Cracking the Code | - |
dc.title | Urine Organic Acid (UOA) Analysis for the diagnosis of Aromatic L-Amino Acid Decarboxylase (AADC) deficiency | - |
dc.type | Conference_Paper | - |
dc.identifier.email | Ling, TK: tkling26@HKUCC-COM.hku.hk | - |
dc.identifier.email | Wong, KC: wkc872@HKUCC-COM.hku.hk | - |
dc.identifier.email | Lam, CW: ching-wanlam@pathology.hku.hk | - |
dc.identifier.authority | Lam, CW=rp00260 | - |
dc.description.nature | abstract | - |
dc.identifier.doi | 10.1016/j.pathol.2020.01.367 | - |
dc.identifier.hkuros | 319038 | - |
dc.identifier.volume | 52 | - |
dc.identifier.issue | Suppl. 1 | - |
dc.identifier.spage | S107 | - |
dc.identifier.epage | S107 | - |
dc.publisher.place | United Kingdom | - |