Disease #07171 (MSUD (maple syrup urine disease))

Official abbreviation MSUD
Name maple syrup urine disease
OMIM ID -
Inheritance -
Individuals reported having this disease 83
Phenotype entries for this disease 83
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2025-08-11 18:49:35 +02:00 (CEST)
Date last edited N/A


Individuals

83 entries on 1 page. Showing entries 1 - 83.
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00466219 KM03 PubMed: Tsurata 1998, Journal: Tsurata 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Japan - - - - - MSUD see paper; ... DBT DBT 1 1 Johan den Dunnen
00466220 KM24 PubMed: Tsurata 1998, Journal: Tsurata 1998 2-generation family, 1 affected, unaffected heterozygous carrier first cousin parents M likely Japan - - - - - MSUD see paper; ... DBT DBT 1 1 Johan den Dunnen
00466221 KM05 PubMed: Tsurata 1998, Journal: Tsurata 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - MSUD see paper; ..., intermittent episodes of ketoacidosis DBT DBT 2 1 Johan den Dunnen
00466222 FamPat1 PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} 2-generation family, 2 affected sibs, unaffected parents - yes Turkey - - - - - MSUD see paper; ... BCKDHA BCKDHA 1 2 Johan den Dunnen
00466223 Pat2 PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} 2-generation family, 1 affected, unaffected parents - yes Turkey - - - - - MSUD see paper; ... BCKDHA BCKDHA 1 1 Johan den Dunnen
00466224 Pat3 PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} 2-generation family, 1 affected, unaffected parents - yes Turkey - - - - - MSUD see paper; ... BCKDHA BCKDHA 1 1 Johan den Dunnen
00466225 Pat4 PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} 2-generation family, 1 affected, unaffected parents - - Turkey - - - - - MSUD see paper; ... BCKDHA BCKDHA 1 1 Johan den Dunnen
00466226 Pat5 PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} 2-generation family, 1 affected, unaffected parents - - Turkey - - - - - MSUD see paper; ... DBT BCKDHA, DBT 2 1 Johan den Dunnen
00466227 Pat6 PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} 2-generation family, 1 affected, unaffected parents - - Turkey - - - - - MSUD see paper; ... BCKDHA BCKDHA 1 1 Johan den Dunnen
00466231 Pat1 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD with rapid deterioration to coma and NICU admission with ventilation. At the age of 3 months, hyperammonemia and dilated cardiomyopathy was detected during routine screening. He had history of frequent hospital readmissions for metabolic decompensation from diagnosis till now. BCKDHA BCKDHA 1 1 Johan den Dunnen
00466232 Pat2 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD with rapid deterioration to coma and NICU admission and ventilation for 55 days. He had history of frequent hospital readmission for metabolic decompensation. BCKDHA BCKDHA 1 1 Johan den Dunnen
00466233 Pat3 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD with rapid deterioration and NICU admission. He required no ventilation. He was readmitted to hospital only two times during the first year with metabolic decompensation. BCKDHA BCKDHA 1 1 Johan den Dunnen
00466234 Pat4 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had neurological insult after first crisis with development of seizures. She had repeated hospital readmissions with metabolic decompensation from diagnosis till now. BCKDHA BCKDHA 1 1 Johan den Dunnen
00466235 Pat5 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had two hospital readmissions for metabolic decompensation from diagnosis till now. BCKDHA BCKDHA 1 1 Johan den Dunnen
00466236 Pat6 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration to coma and NICU admission with ventilation. He had one hospital readmission for severe metabolic crisis at the age 3.0 years which required PICU admission. BCKDHA BCKDHA 1 1 Johan den Dunnen
00466237 Pat7 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration at age of 3 days with poor suckling, vomiting, lethargy, irritability. He was diagnosed by Ms/Ms at 30 days of age. He had multiple hospital readmissions for metabolic decompensation from diagnosis till now. BCKDHA BCKDHA 1 1 Johan den Dunnen
00466238 Pat8 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD moderate; classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had no history of hospital readmission for metabolic decompensation. BCKDHA BCKDHA 1 1 Johan den Dunnen
00466239 Pat9 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD moderate; asymptomatic . She was diagnosed by newborn screening program due to family history of previous sib death with MSUD and she had no hospital admission. Positive family history of an elder sister with classic MSUD, moderate phenotype with rapid deterioration, NICU admission and ventilation in the first week. At the age of 3 month she developed convulsions. She was diagnosed at age of 6 month and started treatment. Then after 3 months she died with fever. BCKDHB BCKDHB 1 1 Johan den Dunnen
00466240 Pat10 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had one hospital readmission with metabolic crisis from diagnosis till now. BCKDHB BCKDHB 1 1 Johan den Dunnen
00466241 Pat11 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had neurological insult after the first metabolic crisis with development of seizures. She had no hospital readmission for crisis from diagnosis till now. BCKDHB BCKDHB 1 1 Johan den Dunnen
00466242 Pat12 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration to coma and NICU admission with ventilation. He had one hospital readmission from diagnosis with protein deficiency till now. BCKDHB BCKDHB 1 1 Johan den Dunnen
00466243 Pat13 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD mild; intermediate form of the disease. He presented with delayed milestones of development at the age of 3.5 months associated with attacks of convulsions. BCKDHB BCKDHB 1 1 Johan den Dunnen
00466244 Pat14 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD moderate; classic MSUD, with early coma at the age of 4 days followed by rapid deterioration that required ventilation for one month. She was, then, diagnosed by Ms/Ms and received treatment for MSUD. She was readmitted one time at 5 years of age due to metabolic crisis. BCKDHB BCKDHB 1 1 Johan den Dunnen
00466245 Pat15 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD presented with poor suckling, vomiting, lethargy, convulsions, irritability, and abnormal level of consciousness. He had frequent hospital readmissions. BCKDHB BCKDHB 1 1 Johan den Dunnen
00466246 Pat16 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD moderate; classic MSUD with rapid deterioration, hyperammonemia and NICU admission with ventilation. He had no hospital readmission from diagnosis till now. BCKDHB BCKDHB 1 1 Johan den Dunnen
00466247 Pat17 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration. He was admitted to NICU for 10 days and was ventilated. BCKDHB BCKDHB 1 1 Johan den Dunnen
00466248 Pat18 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD, developed poor suckling and convulsion on the second day after birth. He was admitted to NICU and ventilated for 30 days. He was then discharged undiagnosed. He was diagnosed by Ms/Ms at 5 months. He had multiple hospital readmissions for metabolic crisis. BCKDHB BCKDHB 1 1 Johan den Dunnen
00466249 Pat19 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD moderate; classic MSUD. He was normal till the age of 7 days. Then he developed poor suckling, lethargy, convulsions. EMS was done at the age of 60 days and was diagnostic for MSUD. The patient lost follow up after one year of age. BCKDHB BCKDHB 1 1 Johan den Dunnen
00466250 Pat20 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration and admission to NICU for 30 days. EMS was done at the age of 14 days, and was diagnostic for MSUD. No history of hospital readmission for metabolic decompensation from diagnosis till now. BCKDHB BCKDHB 1 1 Johan den Dunnen
00466251 Pat21 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD with rapid deterioration and admission to NICU with ventilation for 30 days. Then he was discharged undiagnosed. EMS was done at the age of 3 months and was diagnostic for MSUD. He had history of frequent hospital readmission for metabolic crisis. BCKDHB BCKDHB 1 1 Johan den Dunnen
00466252 Pat22 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration and admission to NICU with ventilation. The EMS was done at age of one month and was diagnostic for MSUD. At the age of 6 years, he was admitted to PICU with convulsions and coma. He had history of frequent hospital readmission for metabolic crisis. BCKDHB BCKDHB 1 1 Johan den Dunnen
00466253 Pat23 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD who was admitted to NICU on the seventh day for 2.5 months and was ventilated. At the age of 4 months, she was admitted to PICU, put on ventilator and was diagnosed as a patient of MSUD. She died at age of 6 months. DBT DBT 1 1 Johan den Dunnen
00466254 Pat24 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD, she was normal till the age of 3 days then she developed poor suckling, excessive crying, irritability, convulsions. At the age of 9 months, Ms/Ms was diagnostic for MSUD. She had frequent hospital readmissions. DBT DBT 1 1 Johan den Dunnen
00466255 Pat25 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD with deterioration to coma and a lengthy admission to NICU and ventilation. He was diagnosed as MSUD at 45 days. He had multiple hospital readmissions for metabolic crisis. DBT DBT 1 1 Johan den Dunnen
00466256 Pat26 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD moderate; asymptomatic She was diagnosed on second day by NBS program due to previous sib diagnosed with MSUD (P25) with no history of hospital admissions. At the age of 3 year, she was admitted to hospital for 1 week due to metabolic decompensation. DBT DBT 1 1 Johan den Dunnen
00466257 Pat27 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD with deterioration and NICU admission and ventilation. He was diagnosed at the age of 2 month and started treatment. No available follow up after the age of 4 months. DBT DBT 1 1 Johan den Dunnen
00466258 Pat28 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD moderate; classic MSUD with deterioration to coma and admission to NICU with ventilation. He had convulsion sine two weeks of age. DBT DBT 1 1 Johan den Dunnen
00466259 Pat29 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration to coma and lengthy NICU admission with ventilation for 60 days. No history of hospital readmission for metabolic decompensation from diagnosis till now. DBT DBT 1 1 Johan den Dunnen
00466260 Pat30 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with deterioration to coma and admission to NICU with ventilation. No history of hospital readmission for metabolic decompensation from diagnosis till now. DBT DBT 1 1 Johan den Dunnen
00466261 Pat31 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration to coma and NICU admission with ventilation. He had no hospital readmission from diagnosis till now. DBT DBT 1 1 Johan den Dunnen
00466262 Pat32 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD mild; asymptomatic classic MSUD that was diagnosed since birth by NBS program due to family history of previous sib death. She had no history of hospital readmission with metabolic crisis. Previous sib deaths due to late diagnosis of MSUD were at the age of 1.5 and 2 months, respectively. DBT DBT 1 1 Johan den Dunnen
00466263 Pat33 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had three hospital readmissions with metabolic crisis from diagnosis till now. DBT DBT 1 1 Johan den Dunnen
00466264 Pat1 Journal: Jaradat 2016 patient M yes Jordan - - - - - MSUD acute encephalopathy and intractable seizures at presentation, later follow up psychomotor retardation, axial hypotonia, brain atrophy BCKDHA BCKDHA 1 1 Johan den Dunnen
00466265 Pat2 Journal: Jaradat 2016 multi-generation family, 2 affected, unaffected heterozygous carrier parents/relatives F - Jordan - - - - - MSUD chronic encephalopathy, spasticity, moderate developmental delay BCKDHA BCKDHA 1 2 Johan den Dunnen
00466266 Pat3 Journal: Jaradat 2016 patient M yes Jordan - 1y - - - MSUD 1y-deceased; hypoactivity and acute encephalopathy at presentation, later follow up severe developmental delay, and brain atrophy BCKDHA BCKDHA 1 1 Johan den Dunnen
00466267 Pat4 Journal: Jaradat 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Jordan Iraq - - - - MSUD mild developmental delay, infrequent partial seizures BCKDHA BCKDHA 2 1 Johan den Dunnen
00466268 Pat5 Journal: Jaradat 2016 2-generation family, affected (sister/brother), unaffected heterozygous carrier parents F yes Jordan - - - - - MSUD moderate developmental delay, hypotonia, mild brain atrophy BCKDHB, DBT BCKDHB, DBT 4 2 Johan den Dunnen
00466269 Pat6 Journal: Jaradat 2016 2-generation family, 2 affected, unaffected heterozygous carrier parents F yes Jordan - - - - - MSUD poor feeding and convulsions at presentation, later follow up moderate developmental delay; MSUD deceased sib DBT DBT 1 2 Johan den Dunnen
00466286 Pat1 PubMed: Jaafar 2013, Journal: Jaafar 2013 2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents F yes Tunisia - 30d - - - MSUD - BCKDHB BCKDHB 1 1 Johan den Dunnen
00466287 Pat2 PubMed: Jaafar 2013, Journal: Jaafar 2013 2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents M yes Tunisia - - - - - MSUD - BCKDHB BCKDHB 1 1 Johan den Dunnen
00466288 Pat3 PubMed: Jaafar 2013, Journal: Jaafar 2013 2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents M yes Tunisia - - - - - MSUD - DBT DBT 1 1 Johan den Dunnen
00466290 msud001 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Turkey - - - - - MSUD classical MSUD - BCKDHA 1 1 Johan den Dunnen
00466291 msud002 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Turkey - - - - - MSUD classical MSUD - BCKDHA, BCKDHB 2 1 Johan den Dunnen
00466292 msud003 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Italy - - - - - MSUD classical MSUD - BCKDHB 1 1 Johan den Dunnen
00466293 msud004 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Spain - - - - - MSUD classical MSUD - DBT 2 1 Johan den Dunnen
00466294 msud005 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Turkey - - - - - MSUD classical MSUD - DBT 1 1 Johan den Dunnen
00466295 msud006 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Germany - - - - - MSUD classical MSUD - BCKDHA 2 1 Johan den Dunnen
00466296 msud007 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Spain - - - - - MSUD classical MSUD - BCKDHA, BCKDHB, DBT 4 1 Johan den Dunnen
00466297 msud008;Pat10 PubMed: Henneke 2003, Journal: Henneke 2003, PubMed: Flaschker 2007 - - - Austria - - - - - MSUD variant MSUD - BCKDHB 2 1 Johan den Dunnen
00466298 msud009;Pat1 PubMed: Henneke 2003, Journal: Henneke 2003, PubMed: Flaschker 2007 - - - Turkey - - - - - MSUD variant MSUD - BCKDHA 1 1 Johan den Dunnen
00466299 msud010 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Turkey - - - - - MSUD classical MSUD - BCKDHB 1 1 Johan den Dunnen
00466300 msud011 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Germany - - - - - MSUD classical MSUD - BCKDHA, DBT 2 1 Johan den Dunnen
00466301 msud013 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Turkey - - - - - MSUD classical MSUD - BCKDHA, BCKDHB 2 1 Johan den Dunnen
00466302 msud014 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Germany - - - - - MSUD classical MSUD - BCKDHB 1 1 Johan den Dunnen
00466303 msud016 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Germany - - - - - MSUD classical MSUD - BCKDHB 2 1 Johan den Dunnen
00466304 msud017 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Turkey - - - - - MSUD classical MSUD - BCKDHB 1 1 Johan den Dunnen
00466305 msud018 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Italy - - - - - MSUD classical MSUD - BCKDHA 1 1 Johan den Dunnen
00466306 msud019 PubMed: Henneke 2003, Journal: Henneke 2003 - - - France - - - - - MSUD variant MSUD - BCKDHA, DBT 3 1 Johan den Dunnen
00466307 msud012 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Turkey - - - - - MSUD classical MSUD - BCKDHB 1 1 Johan den Dunnen
00466308 msud015 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Germany - - - - - MSUD classical MSUD - BCKDHB 1 1 Johan den Dunnen
00466309 Pat6 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - MSUD severe (intermediate) - BCKDHA 1 1 Johan den Dunnen
00466310 Pat16 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - yes Turkey - - - - - MSUD severe (intermediate) - BCKDHA 1 1 Johan den Dunnen
00466311 Pat32 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - yes Turkey - - - - - MSUD mild (newborn screening, mild course) - BCKDHA 1 1 Johan den Dunnen
00466312 Pat7 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - yes Turkey - - - - - MSUD mild (asymptomatic) - BCKDHA 1 1 Johan den Dunnen
00466313 Pat3 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - MSUD severe (intermediate) - BCKDHA 1 1 Johan den Dunnen
00466314 Pat31 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - MSUD mild (newborn screening, mild course) - BCKDHB 2 1 Johan den Dunnen
00466315 Pat4 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - MSUD mild (asymptomatic) - BCKDHB 2 1 Johan den Dunnen
00466316 Pat12 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - MSUD mild (intermittent) - BCKDHB 2 1 Johan den Dunnen
00466317 Pat11 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - MSUD mild (intermittent) - BCKDHB 2 1 Johan den Dunnen
00466318 Pat5 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - MSUD mild (asymptomatic) - BCKDHB 1 1 Johan den Dunnen
00466319 Pat14 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - MSUD mild (intermittent) - BCKDHB 2 1 Johan den Dunnen
00466320 Pat30 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - MSUD classical MSUD - DBT 2 1 Johan den Dunnen
00466321 Pat9 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - MSUD mild MSUD - DBT 1 1 Johan den Dunnen
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