Disease #01895 (HMGCLD (HMG-CoA lyase deficiency), OMIM:246450)

Official abbreviation	HMGCLD
Name	HMG-CoA lyase deficiency
OMIM ID	246450
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	157
Phenotype entries for this disease	140
Associated with 1 gene	HMGCL
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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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
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Antigua and Barbuda
(Antigua and Barbuda)
Argentina
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Armenia
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Aruba
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Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
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Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
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Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
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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
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Monaco
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Mongolia
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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
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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'

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157 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00405118	family	PubMed: Mitchell 1993	-generation family, affected sister/brother, unaffected heterozygous carrier parents	F;M	-	Canada	French-Canadian;Acadian	-	-	-	-	HMGCLD	see paper; ..., non-ketotic hypoglycemia, lethargy, urinary organic acid excretion characteristic of HL deficiency	HMGCL	HMGCL	1	1	Johan den Dunnen
00405120	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405121	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405122	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405123	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405124	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405125	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405126	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405127	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405128	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405129	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405130	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405131	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405132	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405133	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405134	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405135	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405136	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405137	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405138	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405139	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405140	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405141	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405142	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405143	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405144	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405145	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405146	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405147	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405148	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405149	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405150	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405151	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405152	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405153	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405154	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405155	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405156	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405157	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405158	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405159	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405160	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405161	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405162	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405163	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405164	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405165	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405166	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405167	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405168	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405169	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405170	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405171	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405172	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405173	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405174	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405175	-	PubMed: Alfadhel 2022, Journal: Alfadhel 2022	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Muhammad Umair
00405364	PatHL2I	PubMed: Mitchell 1995	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Italy	-	-	-	-	-	HMGCLD	see paper; ..., 2d-seizures, metabolic acidosis, normalized with supportive treatment; 9m-moderate developmental delay, upper respiratory infection	HMGCL	HMGCL	1	1	Johan den Dunnen
00405365	PatHL29	PubMed: Wang 1996	-	-	-	-	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405366	PatHL27	PubMed: Wang 1996	-	-	-	-	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405367	PatEC	PubMed: Buesa 1996	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	Netherlands	Turkey	-	-	-	-	HMGCLD	see paper; ..., 4d-tachypnea, hepatomegaly, lethargy, hypotonia	HMGCL	HMGCL	1	1	Johan den Dunnen
00405368	PatGCL	PubMed: Casals 1997	-	F	no	Spain	-	-	-	-	-	HMGCLD	see paper; ..., 9m-acute episode diagnosed as Reye-like syndrome	HMGCL	HMGCL	1	1	Johan den Dunnen
00405369	PatHL3	PubMed: Mitchell 1998	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405371	PatHL4	PubMed: Mitchell 1998	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405372	PatHL5	PubMed: Mitchell 1998	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405373	PatHL6	PubMed: Mitchell 1998	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405374	PatHL33	PubMed: Mitchell 1998	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405375	PatHL37	PubMed: Mitchell 1998	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405376	PatHL41	PubMed: Mitchell 1998	-	-	-	Turkey	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405377	PatHL36	PubMed: Mitchell 1998	-	-	-	Italy	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405378	PatHL26	PubMed: Mitchell 1998	-	-	-	Netherlands	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405379	PatHL13	PubMed: Mitchell 1998	-	-	-	Austria	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405380	PatHL14	PubMed: Mitchell 1998	-	-	-	-	Cajun;black	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405381	PatHL25	PubMed: Mitchell 1998	-	-	-	England;Germany	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405382	PatHL9	PubMed: Mitchell 1998	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405383	PatHL8	PubMed: Mitchell 1998	-	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405384	Pat1	PubMed: Pie 1997	-	M	no	Portugal	-	-	-	-	-	HMGCLD	see paper; ..., vomiting, hypotonia, hepato- megaly, metabolic acidosis without ketosis	HMGCL	HMGCL	3	1	Johan den Dunnen
00405385	Pat2	PubMed: Pie 1997	-	F	yes	Morocco	-	-	-	-	-	HMGCLD	see paper; ..., 2d-vomiting, convulsions, hypotonia, slight hepatomegaly, hypoglycaemia corrrected by intravenous glucoe administration	HMGCL	HMGCL	1	1	Johan den Dunnen
00405428	PatAB	PubMed: Zapater 1998	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	-	France	-	-	-	-	-	HMGCLD	see paper; ..., tachypnea, lethargy, hypotonia, convulsions	HMGCL	HMGCL	2	1	Johan den Dunnen
00405429	PatMS	PubMed: Muroi 2000	-	M	-	Japan	-	-	-	-	-	HMGCLD	see paper; ..., vomiting, lethargy, convulsions, hypoglycemia, liver dysfunction, metabolic acidosis, hyperammonemi; 4y4m-normal development	HMGCL	HMGCL	1	1	Johan den Dunnen
00405430	PatKY	PubMed: Muroi 2000	-	F	-	Japan	-	-	-	-	-	HMGCLD	see paper; ..., vomiting, drowsiness, hypoglycemia, metabolic acidosis, hyperammonemia; 9y10m-normal development	HMGCL	HMGCL	1	1	Johan den Dunnen
00405431	PatKE	PubMed: Muroi 2000	-	M	-	Japan	-	-	-	-	-	HMGCLD	see paper; ..., coma, convulsion, hypoglycemia, metabolic acidosis, hyperammonemia; 3y8m-normal development	HMGCL	HMGCL	2	1	Johan den Dunnen
00405432	PatAS	PubMed: Muroi 2000	-	F	-	Japan	-	-	-	-	-	HMGCLD	see paper; ..., drowsiness, hypoglycemia, metabolic acidosis, liver dysfunction; 3y6m-normal development	HMGCL	HMGCL	1	1	Johan den Dunnen
00405433	PatST	PubMed: Muroi 2000	-	M	-	Japan	-	-	-	-	-	HMGCLD	see paper; ..., hypothermia, convulsions, hypoglycemia, metabolic acidosis, liver dysfunction; 4y9m-bilateral occipital porencephaly	HMGCL	HMGCL	1	1	Johan den Dunnen
00405446	patient	PubMed: Funghini 2001	7-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	-	Italy	-	-	-	-	-	HMGCLD	see paper; ..., 3d-metabolic acidosis, discharged with diagnosis tubular renal acidosis; 3m-vomiting, lethargy, hypotonia, hepatomegaly	HMGCL	HMGCL	1	1	Johan den Dunnen
00405447	Pat1	PubMed: Pospisilova 2003	-	M	-	Czech Republic	-	-	-	-	-	HMGCLD	see paper; ...	HMGCL	HMGCL	1	1	Johan den Dunnen
00405448	Pat2	PubMed: Pospisilova 2003	-	F	-	Czech Republic	-	-	-	-	-	HMGCLD	see paper; ...	HMGCL	HMGCL	2	1	Johan den Dunnen
00405449	Pat3	PubMed: Pospisilova 2003	-	M	-	Czech Republic	-	-	-	-	-	HMGCLD	see paper; ...	HMGCL	HMGCL	1	1	Johan den Dunnen
00405450	PatDS	PubMed: Casals 2003	-	F	yes	Argentina	-	-	-	-	-	HMGCLD	see paper; ...	HMGCL	HMGCL	1	1	Johan den Dunnen
00405451	PatBP	PubMed: Casals 2003	-	-	-	England	-	-	-	-	-	HMGCLD	see paper; ..., 48h-metabolic acidosis, hypoglycemia	HMGCL	HMGCL	1	1	Johan den Dunnen
00405452	PatTJ	PubMed: Casals 2003	-	M	-	Germany	-	-	-	-	-	HMGCLD	see paper; ..., 4m-aciduria, recurrent vomiting, muscular hypotonia, comatose attacks, hyperammonemia, liver dysfunction, massive excretion of organic acids typical of HMG-CoA lyase deficiency	HMGCL	HMGCL	1	1	Johan den Dunnen
00405453	PatBA	PubMed: Mir 2006	-	M	-	Italy	-	-	-	-	-	HMGCLD	see paper; ...	HMGCL	HMGCL	1	1	Johan den Dunnen
00405455	patient	PubMed: Al-Sayed 2006	analysis 36 HMG-CoA lyase deficiency cases	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405456	patient	PubMed: Al-Sayed 2006	analysis 36 HMG-CoA lyase deficiency cases	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405457	patient	PubMed: Al-Sayed 2006	analysis 36 HMG-CoA lyase deficiency cases	-	-	Saudi Arabia	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	32	Johan den Dunnen
00405458	patient	PubMed: Zafeiriou 2007	-	M	-	Greece	-	-	-	-	-	HMGCLD	see paper; ..., generalized tonic-clonic seizures	HMGCL	HMGCL	2	1	Johan den Dunnen
00405489	patient	PubMed: Carrasco 2007	-	-	-	Spain	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405490	patient	PubMed: Carrasco 2007	-	-	-	Spain	-	-	-	-	-	HMGCLD	-	HMGCL	HMGCL	1	1	Johan den Dunnen
00405491	PatRL	PubMed: Vargas 2008	-	M	-	Brazil	Portugal	-	-	-	-	HMGCLD	seizures, hypoglycaemia, sepsis	HMGCL	HMGCL	2	1	Johan den Dunnen
00405492	PatGA	PubMed: Vargas 2008	-	F	-	Brazil	Portugal	-	-	-	-	HMGCLD	vomiting, hypoglycaemia, metabolic acidosis	HMGCL	HMGCL	2	1	Johan den Dunnen

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Global Variome shared LOVD

MUT (methylmalonyl CoA mutase)