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Acetyl-CoA acetyltransferase-2 deficiency(ACAT2)

MedGen UID:
90995
Concept ID:
C0342735
Disease or Syndrome
Synonyms: ACAT2; ACAT2 DEFICIENCY; Acetoacetyl CoA thiolase, cytosolic; Acetocoenzyme A acetyltransferase 2
SNOMED CT: Cytosolic acetoacetyl-coenzyme A thiolase deficiency (237955004); Cytosolic acetoacetyl-CoA thiolase deficiency (237955004)
 
Gene (location): ACAT2 (6q25.3)
 
Monarch Initiative: MONDO:0013548
OMIM®: 614055

Clinical features

From HPO
Chorea
MedGen UID:
3420
Concept ID:
C0008489
Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Increased circulating lactate concentration
MedGen UID:
332209
Concept ID:
C1836440
Finding
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
Increased serum pyruvate
MedGen UID:
376596
Concept ID:
C1849488
Finding
An increased concentration of pyruvate in the blood.

Recent clinical studies

Etiology

Ahmad F, Mitchell RD, Houben T, Palo A, Yadati T, Parnell AJ, Patel K, Shiri-Sverdlov R, Leake DS
J Am Heart Assoc 2021 Sep 21;10(18):e017524. Epub 2021 Sep 8 doi: 10.1161/JAHA.120.017524. PMID: 34493066Free PMC Article

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