U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Medium chain dicarboxylic aciduria

MedGen UID:
349718
Concept ID:
C1860081
Finding
HPO: HP:0008309

Definition

An increase in the level of medium chain dicarboxylic acid in the urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMedium chain dicarboxylic aciduria

Conditions with this feature

Medium-chain acyl-coenzyme A dehydrogenase deficiency
MedGen UID:
65086
Concept ID:
C0220710
Disease or Syndrome
Individuals with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency typically appear normal at birth, and many are diagnosed through newborn screening programs. Symptomatic individuals experience hypoketotic hypoglycemia in response to either prolonged fasting (e.g., weaning the infant from nighttime feedings) or during intercurrent and common infections (e.g., viral gastrointestinal or upper respiratory tract infections), which typically cause loss of appetite and increased energy requirements when fever is present. Untreated severe hypoglycemic episodes can be accompanied by seizures, vomiting, lethargy, coma, and death. Metabolic decompensation during these episodes can result in elevated liver transaminases and hyperammonemia. Individuals with MCAD deficiency who have experienced the effects of uncontrolled metabolic decompensation are also at risk for chronic myopathy. Early identification and avoidance of prolonged fasting can ameliorate these findings. However, children with MCAD deficiency are at risk for obesity after initiation of treatment due to the frequency of feeding.

Professional guidelines

PubMed

Olpin SE, Manning NJ, Carpenter K, Middleton B, Pollitt RJ
J Inherit Metab Dis 1992;15(6):883-90. doi: 10.1007/BF01800227. PMID: 1293385
Duran M, De Klerk JB, Wadman SK, Bruinvis L, Ketting D
J Inherit Metab Dis 1984;7 Suppl 1:48-51. doi: 10.1007/BF03047374. PMID: 6434845

Recent clinical studies

Etiology

Tein I, Sloane AE, Donner EJ, Lehotay DC, Millington DS, Kelley RI
Pediatr Neurol 1995 Jan;12(1):21-30. doi: 10.1016/0887-8994(94)00100-g. PMID: 7748356

Diagnosis

Schaefer J, Jackson S, Taroni F, Swift P, Turnbull DM
J Neurol Neurosurg Psychiatry 1997 Feb;62(2):169-76. doi: 10.1136/jnnp.62.2.169. PMID: 9048718Free PMC Article

Therapy

Schaefer J, Jackson S, Taroni F, Swift P, Turnbull DM
J Neurol Neurosurg Psychiatry 1997 Feb;62(2):169-76. doi: 10.1136/jnnp.62.2.169. PMID: 9048718Free PMC Article
Matsuo M, Saiki K, Momota T, Ishida A, Kanazawa K, Murakami R, Nakamura H, Matsuo T
Acta Paediatr Jpn 1989 Apr;31(2):211-5. doi: 10.1111/j.1442-200x.1989.tb01291.x. PMID: 2516701
Del Valle JA, Garcia MJ, Merinero B, Pérez-Cerdá C, Roman F, Jimenez A, Ugarte M, Martínez-Pardo M, Ludeña C, Camarero C
J Inherit Metab Dis 1984;7(2):62-4. doi: 10.1007/BF01805804. PMID: 6434827

Clinical prediction guides

Del Valle JA, Garcia MJ, Merinero B, Pérez-Cerdá C, Roman F, Jimenez A, Ugarte M, Martínez-Pardo M, Ludeña C, Camarero C
J Inherit Metab Dis 1984;7(2):62-4. doi: 10.1007/BF01805804. PMID: 6434827

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...