All individuals with variants in gene BCKDHA

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

50 entries on 1 page. Showing entries 1 - 50.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000047	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	2	1	Global Variome, with Curator vacancy
00000076	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00181057	-	-	-	-	-	-	-	-	-	-	-	MSUD1A	-	2	1	Belen Perez
00292137	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00292138	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	18	Mohammed Faruq
00292140	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00309859	M015	PubMed: Roman 2020, Journal: Roman 2020	new-born screening	-	-	United States	-	-	-	-	-	MSUD1A	see paper; ...	1	1	Johan den Dunnen
00451630	3bINP-062	PubMed: Vela-Amieva 2024	-	F	no	Mexico	Mexican	-	-	-	-	MSUD1A	-	2	1	Miriam Erandi Reyna-Fabián
00453612	Pat28	PubMed: Navarrete 2019	newborn screening	-	-	Spain	-	-	-	-	-	metabolic syndrome	see paper; ..., newborn screening tandem mass spectrometry dried blood spots	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; ...	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; ...	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; ...	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; ...	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; ...	1	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; ...	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.	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.	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.	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.	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.	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.	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.	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.	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	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	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	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	2	1	Johan den Dunnen
00466270	-	Journal: Jaradat 2016	control	-	-	Jordan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00466271	-	Journal: Jaradat 2016	control	-	-	Jordan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00466272	-	Journal: Jaradat 2016	control	-	-	Jordan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00466273	-	Journal: Jaradat 2016	control	-	-	Jordan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00466277	-	Journal: Jaradat 2016	control	-	-	Jordan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00466290	msud001	PubMed: Henneke 2003, Journal: Henneke 2003	-	-	-	Turkey	-	-	-	-	-	MSUD	classical MSUD	1	1	Johan den Dunnen
00466291	msud002	PubMed: Henneke 2003, Journal: Henneke 2003	-	-	-	Turkey	-	-	-	-	-	MSUD	classical MSUD	1	1	Johan den Dunnen
00466295	msud006	PubMed: Henneke 2003, Journal: Henneke 2003	-	-	-	Germany	-	-	-	-	-	MSUD	classical MSUD	2	1	Johan den Dunnen
00466296	msud007	PubMed: Henneke 2003, Journal: Henneke 2003	-	-	-	Spain	-	-	-	-	-	MSUD	classical MSUD	1	1	Johan den Dunnen
00466298	msud009;Pat1	PubMed: Henneke 2003, Journal: Henneke 2003, PubMed: Flaschker 2007	-	-	-	Turkey	-	-	-	-	-	MSUD	variant MSUD	1	1	Johan den Dunnen
00466300	msud011	PubMed: Henneke 2003, Journal: Henneke 2003	-	-	-	Germany	-	-	-	-	-	MSUD	classical MSUD	1	1	Johan den Dunnen
00466301	msud013	PubMed: Henneke 2003, Journal: Henneke 2003	-	-	-	Turkey	-	-	-	-	-	MSUD	classical MSUD	1	1	Johan den Dunnen
00466305	msud018	PubMed: Henneke 2003, Journal: Henneke 2003	-	-	-	Italy	-	-	-	-	-	MSUD	classical MSUD	1	1	Johan den Dunnen
00466306	msud019	PubMed: Henneke 2003, Journal: Henneke 2003	-	-	-	France	-	-	-	-	-	MSUD	variant MSUD	1	1	Johan den Dunnen
00466309	Pat6	PubMed: Flaschker 2007, Journal: Flaschker 2007	-	-	-	Germany	-	-	-	-	-	MSUD	severe (intermediate)	1	1	Johan den Dunnen
00466310	Pat16	PubMed: Flaschker 2007, Journal: Flaschker 2007	-	-	yes	Turkey	-	-	-	-	-	MSUD	severe (intermediate)	1	1	Johan den Dunnen
00466311	Pat32	PubMed: Flaschker 2007, Journal: Flaschker 2007	-	-	yes	Turkey	-	-	-	-	-	MSUD	mild (newborn screening, mild course)	1	1	Johan den Dunnen
00466312	Pat7	PubMed: Flaschker 2007, Journal: Flaschker 2007	-	-	yes	Turkey	-	-	-	-	-	MSUD	mild (asymptomatic)	1	1	Johan den Dunnen
00466313	Pat3	PubMed: Flaschker 2007, Journal: Flaschker 2007	-	-	-	Germany	-	-	-	-	-	MSUD	severe (intermediate)	1	1	Johan den Dunnen
00466322	control	PubMed: Flaschker 2007, Journal: Flaschker 2007	-	-	-	Germany	-	-	-	-	-	Healthy/Control	-	1	5	Johan den Dunnen
00466323	control	PubMed: Flaschker 2007, Journal: Flaschker 2007	-	-	-	Germany	-	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00466324	control	PubMed: Flaschker 2007, Journal: Flaschker 2007	-	-	-	Germany	-	-	-	-	-	Healthy/Control	-	1	7	Johan den Dunnen
00466325	control	PubMed: Flaschker 2007, Journal: Flaschker 2007	-	-	-	Germany	-	-	-	-	-	Healthy/Control	-	1	9	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

BCKDHA (branched chain keto acid dehydrogenase E1, ...)