Links from Gene

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

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.

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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.

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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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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).

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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.

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Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
- Reduced tissue acetyl-CoA carboxylase activity
Abnormality of the musculoskeletal system
- Hypotonia
- Myopathy
Abnormality of the nervous system
- Global developmental delay
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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