Paula and Bobby
Parents of Lillie
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of; ACADMD
What is Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of; ACADMD?
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of; ACADMD is a rare disease. It is also known as Acadm Deficiency ACADM, MC Carnitine Deficiency Secondary To Medium-chain Acyl-coa Dehydrogenase Deficiency Mcad Deficiency Mcadh Deficiency.
This is an inborn error of fatty acid beta-oxidation and it results in reduced acetyl-CoA production and defective production of ketones. Indeed the diagnosis might be suspected if, in the presence of severe hypoglycaemia (one of the features, but not always present), ketonuria does not result. The infants present with lethargy, coma, seizures and a fatty liver. There are therefore similarities to Reye syndrome. Ammonia might be raised as are liver transaminases. The urine shows an increase in dicarboxylic acids and carnitine deficiency can be demonstrated. Treatment entails a high carbohydrate diet with avoidance of fasting. Carnitine supplementation may be beneficial. 85% of patients are homozygous for an A-to-G mutation at position 985 of the medium-chain acyl-CoA dehydrogenase gene. Iafolla et al., (1994) provide a good review of 120 cases. Note that the HELLP syndrome (see under LCAD) can be associated with this condition (Nelson et al., 2000). In the family reported by Korman et al., (2004), the index patient ( with a IVS3-1G>C) mutation) died on the 2nd day of life, a sibling died at 3 months, and another sibling with the same mutation, aged 6 years, was asymptomatic.
It has been estimated that the incidence at birth is as high as 1 in 6000, and the suggestion has been made that many cases may be labelled as idiopathic 'cot-death', however Holton et al., (1991) found no cases after systemic investigation of 88 cases of sudden infant death. Arens et al., (1993) studied 1,244 samples from cot death cases, searching for the G985 mutation, and found no homozygotes. Lundemose et al., (1993) also found no cases in a series of 128 cases of cot death. There have been various studies of the heterozygous frequency for the G985 mutation in different populations. These include an estimate of 1 in 40-68 in England, 1 in 276 in Scotland, 1 in 118 in Australia, 1 in 107 in the USA, and no carriers amongst 500 Japanese neonates (Dundar et al., 1993). Compound heterozygotes may have no symptoms (Albers et al., 2001). A good case for neonatal screening is outlined by Clayton et al., (1998) and Wilson et al., (1999). Because of the high frequency, pseudodominance has been reported (Bodman et al., 2001).
Prenatal diagnosis can be achieved even in the absence of a detected mutation (Nada et al., 1996).
* This information is courtesy of the L M D.
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What gene changes cause Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of; ACADMD?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 201450 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
ACADM - 1p31.1
What are the main symptoms of Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of; ACADMD?
The typical symptoms of the syndrome are:
Autosomal recessive inheritance, Seizure, Elevated hepatic transaminase, Decreased plasma carnitine, Coma, Muscular hypotonia, Metabolic acidosis, Medium chain dicarboxylic aciduria, Lethargy, Global developmental delay, Hypoglycemia, Hepatomegaly, Hepatic steatosis, Hyperglycinuria, Vomiting, Cerebral edema
How does someone get tested for Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of; ACADMD?
The initial testing for Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of; ACADMD can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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