46753-0

Very long chain hydroxy acyl dehydrogenase deficiency newborn screen interpretation

Discouraged

Status Information

Status: DISCOURAGED
Comment: We discourage the use of this term (though it is allowed) in favor of the preferred method for reporting newborn screening fatty acid oxidation results using 46736-5 (Fatty acid oxidation defects newborn screen interpretation) together with 57792-4 (Fatty acid oxidation conditions suspected).

Map-To	Long Common Name	Mapping Guidance
57792-4	Fatty acid oxidation conditions suspected [Identifier] in DBS
46736-5	Fatty acid oxidation defects newborn screen interpretation

Part Description

LP56760-9 Very long chain hydroxy acyl dehydrogenase deficiency
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). VLCAD deficiency is cause by mutations in the ACADVL gene, which are inherited in an autosomal recessive pattern. Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness. Affected individuals are also at risk for serious complications such as liver abnormalities and life-threatening heart problems. When symptoms begin in adolescence or adulthood, they tend to be milder and usually do not involve the heart. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency

LOINC Names Get Info

Fully-Specified Name: Very long chain hydroxy acyl dehydrogenase deficiency:Imp:Pt:Bld.dot:Nom:
Long Common Name: Very long chain hydroxy acyl dehydrogenase deficiency newborn screen interpretation
Short Name: VLCADD DBS-Imp
Display Name: Very long chain hydroxy acyl dehydrogenase deficiency (DBS) [Interp]
Consumer Name Alpha Get Info: Very long chain hydroxy acyl dehydrogenase deficiency, Dried blood spot

Part Model Get Info

Component
Very long chain hydroxy acyl dehydrogenase deficiency
LP56760-9
- Analyte
  Very long chain hydroxy acyl dehydrogenase deficiency
  LP56760-9
  - Component Numerator
    Very long chain hydroxy acyl dehydrogenase deficiency
    LP56760-9
    - Component Numerator Core
      Very long chain hydroxy acyl dehydrogenase deficiency
      LP56760-9
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Imp
LP6819-9
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld.dot
LP21304-8
- System Core
  Bld.dot
  LP21304-8
- Super System
  NULL
Scale
Nom
LP7750-5
Method
NULL

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.19
Last Updated: Version 2.44 (MIN)
Order vs. Observation: Observation

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Acyl-CoA-dehydrogenáza mastných kyselin s velmi dlouhým řetězcem deficit (VLCAD):Interpretace:Časový bod:Suchá krevní kapka (DBS):Nominální:
el-GR	Greek (Greece)	Ανεπάρκεια αφυδρογονάσης υδροξυ-ακυλικών πολύ μακράς αλύσου:Imp:Pt:Bld.dot:Nom: Synonyms: Bld.dot CHEM Imp Nom Pt Αίμα Ανεπάρκεια αφυδρογονάσης υδροξυ-ακυλικών πολύ μακράς αλύσου
es-ES	Spanish (Spain)	Deficiencia de la acil-CoA dehidrogenasa de muy larga cadena:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX	Spanish (Mexico)	Deficiencia de hidroxi acil deshidrogenasa de cadena muy larga:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-CA	French (Canada)	Déficit en hydroxyacyldéshydrogénase à très longue chaîne:Impression:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-BE	French (Belgium)	Déficit en hydroxyacyldéshydrogénase à très longue chaîne:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT	Italian (Italy)	Idrossi acil deidrogenasi a catena molto lunga, deficit:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Deficit di idrossi acil deidrogenasi a catena molt Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	zeer lange keten hydroxy-acyldehydrogenasedeficiëntie:interpretatie:moment:gedroogde bloedspot:nominaal: Synonyms: zeer lange keten hydroxy-acyldehydrogenase deficientie
pt-BR	Portuguese (Brazil)	Cadeia muito longa deficiência de hidroxi acil dehidrogenase:Imp:Pt:SgPapel:Nom: Synonyms: ; VLCADD; VLCAD; Interpretation; Interp; Impression; Impressions; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; VLC; LCHAD deficiency; LCHADD; Hydrox; OH; Dehydrog; Dehyrdogenase; Chn; Chains; Chemistry
tr-TR	Turkish (Turkey)	Çok uzun zincirli hidroksi açil dehidrojenaz yetmezliği:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN	Chinese (China)	极长链羟基酰基辅酶 A 脱氢酶缺陷:印象:时间点:全血.斑点:名义型: Synonyms: Hydroxy LCHAD deficiency LCHAD 缺乏症 LCHAD 缺陷 LCHADD OH VLCAD;VLCADD;极长链羟基酰基-CoA 脱氢酶缺陷;极长链羟基酰基脱氢酶缺陷;极长链羟基酰基脱氢酶缺陷（Very Long Chain Hydroxy Acyl Dehydrogenase Deficiency，VLCADD）;极长链羟基酰基辅酶 A 脱氢酶缺陷（Very Long Chain Hydroxy Acyl Dehydrogenase Deficiency，VLCADD）;极长链羟酰-CoA 脱氢酶缺陷;极长链羟酰基-CoA 脱氢酶缺陷;极长链羟酰基脱氢酶缺陷;极长链羟酰基辅酶 A 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释去氢酶时刻;随机;随意;瞬间极长链（Very long chain，VLC）羟血;血液长链羟基酰基-CoA 脱氢酶缺乏症长链羟基酰基-CoA 脱氢酶缺陷长链羟基酰基脱氢酶缺乏症长链羟基酰基脱氢酶缺陷长链羟基酰基脱氢酶缺陷（Long chain hydroxy acyl dehydrogenase deficiency，LCHAD deficiency，LCHAD 缺陷，LCHAD 缺乏症，LCHADD）长链羟基酰基辅酶 A 脱氢酶缺乏症长链羟基酰基辅酶 A 脱氢酶缺陷（Long chain hydroxy acyl-CoA dehydrogenase deficiency，LCHAD deficiency，LCHAD 缺陷，LCHAD 缺乏症，LCHADD）长链羟基醯 CoA 去氢酶缺乏症长链羟基醯去氢酶缺乏症长链羟基醯辅酶 A 去氢酶缺乏症长链羟酰基-CoA 脱氢酶缺乏症长链羟酰基-CoA 脱氢酶缺陷长链羟酰基脱氢酶缺乏症长链羟酰基脱氢酶缺陷长链羟酰基辅酶 A 脱氢酶缺乏症长链羟酰基辅酶 A 脱氢酶缺陷长链羟醯-CoA 去氢酶缺乏症长链羟醯去氢酶缺乏症长链羟醯辅酶 A 去氢酶缺乏症

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