Long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency
LCHAD deficiency

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Prevalence of clinical parameters (%)

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Hypotonia nervous 100 % 9003853 2012-01-18
Cardiomyopathy circulatory 100 % 9003853 2012-01-18
Developmental delay multi 100 % 9003853 2012-01-18
Areflexia nervous 100 % 9003853 2012-01-18
Lactate accumulation circulatory 100 % 9003853 2012-01-18
Hyperammonemia circulatory 100 % 9003853 2012-01-18
Low plasma carnitine circulatory 100 % 9003853 2012-01-18
Increased blood transaminase circulatory 100 % 9003853 2012-01-18
Hepatomegaly digestive 92 % 9003853 2012-01-18
3-hydroxydicarboxylic aciduria circulatory 90 % 9003853 2012-01-18
Hypoglycemia multi 85 % 9003853 2012-01-18
Increased blood CK circulatory 60 % 9003853 2012-01-18
Retinitis pigmentosa nervous 55 % 9003853 2012-01-18
Failure to thrive multi 38 % 9003853 2012-01-18
Vomiting digestive 23 % 9003853 2012-01-18
Seizures nervous 23 % 9003853 2012-01-18
Neuropathy nervous 20 % 9003853 2012-01-18
Jaundice digestive 15 % 9003853 2012-01-18

List of references:

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.
T Tyni, A Palotie, L Viinikka, L Valanne, M K Salo, U von Döbeln, S Jackson, R Wanders, N Venizelos, H Pihko,

Long-chain 3-hydroxyacyl-coenzyme A (CoA) dehydrogenase is one of three enzyme activities of the mitochondrial trifunctional protein. We report the clinical findings of 13 patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. At presentation the patients had had hypoglycemia, cardiomyopathy, muscle hypotonia, and hepatomegaly during the first 2 years of life. Seven patients had recurrent metabolic crises, and six patients had a steadily progressive course. Two patients had cholestatic liver disease, which is uncommon in beta-oxidation defects. One patient had peripheral neuropathy, and six patients had retinopathy with focal pigmentary aggregations or retinal hypopigmentation. All patients were homozygous for the common mutation G1528C. However, the enoyl-CoA hydratase and 3-ketoacyl-CoA thiolase activities of the mitochondrial trifunctional protein were variably decreased in skin fibroblasts. Dicarboxylic aciduria was detected in 9 of 10 patients, and most patients had lactic acidosis, increased serum creatine kinase activities, and low serum carnitine concentration. Neuroradiologically there was bilateral periventricular or focal cortical lesions in three patients, and brain atrophy in one. Only one patient, who has had dietary treatment for 9 years, is alive at the age of 14 years; all others died before they were 2 years of age. Recognition of the clinical features of long-chain 3-hydroxyacyl-CoA deficiency is important for the early institution of dietary management, which may alter the otherwise invariably poor prognosis.

The Journal of pediatrics - Jan 1997