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Acetyl-CoA: carboxylase deficiency(ACACAD)

MedGen UID:
124338
Concept ID:
C0268603
Disease or Syndrome
Synonyms: ACACA DEFICIENCY; ACACAD; ACC1 DEFICIENCY; Acetyl-CoA carboxylase deficiency
SNOMED CT: Deficiency of acetyl-CoA carboxylase (4920001); Acetyl-CoA carboxylase deficiency (4920001); Deficiency of acetyl-coenzyme A carboxylase (4920001)
 
Gene (location): ACACA (17q12)
 
Monarch Initiative: MONDO:0013493
OMIM®: 613933

Definition

Acetyl-CoA carboxylase-alpha deficiency (ACACAD) is an autosomal recessive disorder characterized by hypotonia and global developmental delay (summary by Shafieipour et al., 2023). [from OMIM]

Clinical features

From HPO
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
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.
Myopathy
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
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).
Reduced tissue acetyl-CoA carboxylase activity
MedGen UID:
1054895
Concept ID:
CN377026
Finding
Activity of acetyl-CoA carboxylase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including liver.

Recent clinical studies

Etiology

Suormala T, Fowler B, Duran M, Burtscher A, Fuchshuber A, Tratzmüller R, Lenze MJ, Raab K, Baur B, Wick H, Baumgartner R
Pediatr Res 1997 May;41(5):666-73. doi: 10.1203/00006450-199705000-00011. PMID: 9128289
Bartlett K
Adv Clin Chem 1983;23:141-98. doi: 10.1016/s0065-2423(08)60400-x. PMID: 6152513

Diagnosis

Suormala T, Fowler B, Duran M, Burtscher A, Fuchshuber A, Tratzmüller R, Lenze MJ, Raab K, Baur B, Wick H, Baumgartner R
Pediatr Res 1997 May;41(5):666-73. doi: 10.1203/00006450-199705000-00011. PMID: 9128289

Therapy

Bartlett K, Ghneim HK, Stirk HJ, Wastell H
J Inherit Metab Dis 1985;8 Suppl 1:46-52. doi: 10.1007/BF01800659. PMID: 2864473
Bonjour JP
Ann N Y Acad Sci 1985;447:97-104. doi: 10.1111/j.1749-6632.1985.tb18428.x. PMID: 2861782
Bartlett K
Adv Clin Chem 1983;23:141-98. doi: 10.1016/s0065-2423(08)60400-x. PMID: 6152513
Narisawa K, Arai N, Igarashi Y, Satoh T, Tada K, Hirooka Y
J Inherit Metab Dis 1982;5(2):67-8. doi: 10.1007/BF01799990. PMID: 6133032
Wolf B, Feldman GL
Am J Hum Genet 1982 Sep;34(5):699-716. PMID: 6127031Free PMC Article

Prognosis

Suormala T, Fowler B, Duran M, Burtscher A, Fuchshuber A, Tratzmüller R, Lenze MJ, Raab K, Baur B, Wick H, Baumgartner R
Pediatr Res 1997 May;41(5):666-73. doi: 10.1203/00006450-199705000-00011. PMID: 9128289

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