Abnormal α‐aminoadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhage
Summary α‐Aminoadipic acid (αAA) is an intermediate in lysine metabolism. We report a new case with αAA excess in urine and plasma, without α‐ketoadipic acid, in a full‐term male child born to unrelated parents; he presented at 24h of life with seizures that failed to respond to phenobarbital, clona...
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| Veröffentlicht in: | Journal of inherited metabolic disease 1995-01, Vol.18 (1), p.56-60 |
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| container_title | Journal of inherited metabolic disease |
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| creator | Candito, M. Richelme, C. Parvy, P. Dageville, C. Appert, A. Bekri, S. Rabier, D. Chambon, P. Mariani, R. Kamoun, P. |
| description | Summary
α‐Aminoadipic acid (αAA) is an intermediate in lysine metabolism. We report a new case with αAA excess in urine and plasma, without α‐ketoadipic acid, in a full‐term male child born to unrelated parents; he presented at 24h of life with seizures that failed to respond to phenobarbital, clonazepam, and Vigabatrin and death occurred on the 38th day of life. Brain imaging suggested antenatal haemorrhage. Small quantities of αAA were also detected in the blood and urine of both parents and a healthy brother, all three of whom exhibited the same defect in platelet aggregation as the deceased child. Both parents had decreased levels of plasma neopterin, a finding that might be related to the immunodeficiency described in other cases. |
| doi_str_mv | 10.1007/BF00711373 |
| format | Article |
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α‐Aminoadipic acid (αAA) is an intermediate in lysine metabolism. We report a new case with αAA excess in urine and plasma, without α‐ketoadipic acid, in a full‐term male child born to unrelated parents; he presented at 24h of life with seizures that failed to respond to phenobarbital, clonazepam, and Vigabatrin and death occurred on the 38th day of life. Brain imaging suggested antenatal haemorrhage. Small quantities of αAA were also detected in the blood and urine of both parents and a healthy brother, all three of whom exhibited the same defect in platelet aggregation as the deceased child. Both parents had decreased levels of plasma neopterin, a finding that might be related to the immunodeficiency described in other cases.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/BF00711373</identifier><identifier>PMID: 7623443</identifier><identifier>CODEN: JIMDDP</identifier><language>eng</language><publisher>Dordrecht: Kluwer Academic Publishers</publisher><subject>2-Aminoadipic Acid - urine ; Amino Acid Metabolism, Inborn Errors - blood ; Amino Acid Metabolism, Inborn Errors - pathology ; Amino Acid Metabolism, Inborn Errors - urine ; Aminoacid disorders ; Biological and medical sciences ; Biopterins - analogs & derivatives ; Biopterins - blood ; Brain - diagnostic imaging ; Brain - pathology ; Cerebral Hemorrhage - blood ; Cerebral Hemorrhage - pathology ; Cerebral Hemorrhage - urine ; Errors of metabolism ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Medical sciences ; Metabolic diseases ; Neopterin ; Platelet Aggregation - physiology ; Seizures - congenital ; Tomography, X-Ray Computed ; Vitamin K Deficiency Bleeding - blood ; Vitamin K Deficiency Bleeding - pathology ; Vitamin K Deficiency Bleeding - urine</subject><ispartof>Journal of inherited metabolic disease, 1995-01, Vol.18 (1), p.56-60</ispartof><rights>1995 SSIEM</rights><rights>1995 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3816-fc306046ebcd2b8b030bfd8f6114439252e92dac657d509dd72200441bc4c0163</citedby><cites>FETCH-LOGICAL-c3816-fc306046ebcd2b8b030bfd8f6114439252e92dac657d509dd72200441bc4c0163</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,4009,27902,27903,27904</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3485399$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7623443$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Candito, M.</creatorcontrib><creatorcontrib>Richelme, C.</creatorcontrib><creatorcontrib>Parvy, P.</creatorcontrib><creatorcontrib>Dageville, C.</creatorcontrib><creatorcontrib>Appert, A.</creatorcontrib><creatorcontrib>Bekri, S.</creatorcontrib><creatorcontrib>Rabier, D.</creatorcontrib><creatorcontrib>Chambon, P.</creatorcontrib><creatorcontrib>Mariani, R.</creatorcontrib><creatorcontrib>Kamoun, P.</creatorcontrib><title>Abnormal α‐aminoadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhage</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><description>Summary
α‐Aminoadipic acid (αAA) is an intermediate in lysine metabolism. We report a new case with αAA excess in urine and plasma, without α‐ketoadipic acid, in a full‐term male child born to unrelated parents; he presented at 24h of life with seizures that failed to respond to phenobarbital, clonazepam, and Vigabatrin and death occurred on the 38th day of life. Brain imaging suggested antenatal haemorrhage. Small quantities of αAA were also detected in the blood and urine of both parents and a healthy brother, all three of whom exhibited the same defect in platelet aggregation as the deceased child. Both parents had decreased levels of plasma neopterin, a finding that might be related to the immunodeficiency described in other cases.</description><subject>2-Aminoadipic Acid - urine</subject><subject>Amino Acid Metabolism, Inborn Errors - blood</subject><subject>Amino Acid Metabolism, Inborn Errors - pathology</subject><subject>Amino Acid Metabolism, Inborn Errors - urine</subject><subject>Aminoacid disorders</subject><subject>Biological and medical sciences</subject><subject>Biopterins - analogs & derivatives</subject><subject>Biopterins - blood</subject><subject>Brain - diagnostic imaging</subject><subject>Brain - pathology</subject><subject>Cerebral Hemorrhage - blood</subject><subject>Cerebral Hemorrhage - pathology</subject><subject>Cerebral Hemorrhage - urine</subject><subject>Errors of metabolism</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Neopterin</subject><subject>Platelet Aggregation - physiology</subject><subject>Seizures - congenital</subject><subject>Tomography, X-Ray Computed</subject><subject>Vitamin K Deficiency Bleeding - blood</subject><subject>Vitamin K Deficiency Bleeding - pathology</subject><subject>Vitamin K Deficiency Bleeding - urine</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kEuO1DAQhi0EGpqBDXukLBALpED5mWQ5D-aBBrGBdVS2K91GidPYaTWzGXEErsJFOAQnIU23hh0Ll136v_pL_hl7zuENB6jenl7MlXNZyQdswXUlS2GMfsgWwBUv60brx-xJzl8AoKm1PmJHlRFSKblgdyc2jmnAvvj18_f3HziEOKIP6-AKdMEX9M0lmsIYixALLCJt7ZhisQ3Tam49deSmnbTucaKepgKXy0RL_DuC0c9noojTvMBRIpvmxwppGFNa4ZKeskcd9pmeHe5j9vni3aezq_Lm4-X12clN6WTNTdk5CQaUIeu8sLUFCbbzdWc4n3_RCC2oER6d0ZXX0HhfCQGgFLdOOeBGHrNXe991Gr9uKE_tELKjvsdI4ya3VaW4kHIHvt6DLo05J-radQoDptuWQ7sLu_0X9gy_OLhu7ED-Hj2kO-svDzpmh32XMLqQ7zGpai2bZsZgj21DT7f_Wdi-v_5wDqCN_APXp5a8</recordid><startdate>199501</startdate><enddate>199501</enddate><creator>Candito, M.</creator><creator>Richelme, C.</creator><creator>Parvy, P.</creator><creator>Dageville, C.</creator><creator>Appert, A.</creator><creator>Bekri, S.</creator><creator>Rabier, D.</creator><creator>Chambon, P.</creator><creator>Mariani, R.</creator><creator>Kamoun, P.</creator><general>Kluwer Academic Publishers</general><general>Springer</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>199501</creationdate><title>Abnormal α‐aminoadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhage</title><author>Candito, M. ; Richelme, C. ; Parvy, P. ; Dageville, C. ; Appert, A. ; Bekri, S. ; Rabier, D. ; Chambon, P. ; Mariani, R. ; Kamoun, P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3816-fc306046ebcd2b8b030bfd8f6114439252e92dac657d509dd72200441bc4c0163</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>2-Aminoadipic Acid - urine</topic><topic>Amino Acid Metabolism, Inborn Errors - blood</topic><topic>Amino Acid Metabolism, Inborn Errors - pathology</topic><topic>Amino Acid Metabolism, Inborn Errors - urine</topic><topic>Aminoacid disorders</topic><topic>Biological and medical sciences</topic><topic>Biopterins - analogs & derivatives</topic><topic>Biopterins - blood</topic><topic>Brain - diagnostic imaging</topic><topic>Brain - pathology</topic><topic>Cerebral Hemorrhage - blood</topic><topic>Cerebral Hemorrhage - pathology</topic><topic>Cerebral Hemorrhage - urine</topic><topic>Errors of metabolism</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Neopterin</topic><topic>Platelet Aggregation - physiology</topic><topic>Seizures - congenital</topic><topic>Tomography, X-Ray Computed</topic><topic>Vitamin K Deficiency Bleeding - blood</topic><topic>Vitamin K Deficiency Bleeding - pathology</topic><topic>Vitamin K Deficiency Bleeding - urine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Candito, M.</creatorcontrib><creatorcontrib>Richelme, C.</creatorcontrib><creatorcontrib>Parvy, P.</creatorcontrib><creatorcontrib>Dageville, C.</creatorcontrib><creatorcontrib>Appert, A.</creatorcontrib><creatorcontrib>Bekri, S.</creatorcontrib><creatorcontrib>Rabier, D.</creatorcontrib><creatorcontrib>Chambon, P.</creatorcontrib><creatorcontrib>Mariani, R.</creatorcontrib><creatorcontrib>Kamoun, P.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of inherited metabolic disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Candito, M.</au><au>Richelme, C.</au><au>Parvy, P.</au><au>Dageville, C.</au><au>Appert, A.</au><au>Bekri, S.</au><au>Rabier, D.</au><au>Chambon, P.</au><au>Mariani, R.</au><au>Kamoun, P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Abnormal α‐aminoadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhage</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>1995-01</date><risdate>1995</risdate><volume>18</volume><issue>1</issue><spage>56</spage><epage>60</epage><pages>56-60</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><abstract>Summary
α‐Aminoadipic acid (αAA) is an intermediate in lysine metabolism. We report a new case with αAA excess in urine and plasma, without α‐ketoadipic acid, in a full‐term male child born to unrelated parents; he presented at 24h of life with seizures that failed to respond to phenobarbital, clonazepam, and Vigabatrin and death occurred on the 38th day of life. Brain imaging suggested antenatal haemorrhage. Small quantities of αAA were also detected in the blood and urine of both parents and a healthy brother, all three of whom exhibited the same defect in platelet aggregation as the deceased child. Both parents had decreased levels of plasma neopterin, a finding that might be related to the immunodeficiency described in other cases.</abstract><cop>Dordrecht</cop><pub>Kluwer Academic Publishers</pub><pmid>7623443</pmid><doi>10.1007/BF00711373</doi><tpages>5</tpages></addata></record> |
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| identifier | ISSN: 0141-8955 |
| ispartof | Journal of inherited metabolic disease, 1995-01, Vol.18 (1), p.56-60 |
| issn | 0141-8955 1573-2665 |
| language | eng |
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| source | MEDLINE; Springer Nature - Complete Springer Journals |
| subjects | 2-Aminoadipic Acid - urine Amino Acid Metabolism, Inborn Errors - blood Amino Acid Metabolism, Inborn Errors - pathology Amino Acid Metabolism, Inborn Errors - urine Aminoacid disorders Biological and medical sciences Biopterins - analogs & derivatives Biopterins - blood Brain - diagnostic imaging Brain - pathology Cerebral Hemorrhage - blood Cerebral Hemorrhage - pathology Cerebral Hemorrhage - urine Errors of metabolism Humans Infant, Newborn Magnetic Resonance Imaging Male Medical sciences Metabolic diseases Neopterin Platelet Aggregation - physiology Seizures - congenital Tomography, X-Ray Computed Vitamin K Deficiency Bleeding - blood Vitamin K Deficiency Bleeding - pathology Vitamin K Deficiency Bleeding - urine |
| title | Abnormal α‐aminoadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhage |
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