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): Gene(s) directly associated with this condition or phenotype.	ACACA (17q12)

Monarch Initiative:	MONDO:0013493
OMIM®:	613933

Clinical features

From HPO

Growth delay

MedGen UID:: 99124
•Concept ID:: C0456070
•: Pathologic Function

A deficiency or slowing down of growth pre- and postnatally.

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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.

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Myopathy

MedGen UID:: 10135
•Concept ID:: C0026848
•: Disease or Syndrome

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

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Generalized hypotonia

MedGen UID:: 346841
•Concept ID:: C1858120
•: Finding

Generalized muscular hypotonia (abnormally low muscle tone).

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Abnormality of the musculoskeletal system
Growth abnormality
- Growth delay

Recent clinical studies

Etiology

Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.

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

Vitamin-responsive inborn errors of metabolism.

Bartlett K
Adv Clin Chem 1983;23:141-98. doi: 10.1016/s0065-2423(08)60400-x. PMID: 6152513

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