Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
Mitochondrial trifunctional protein (MTP), an enzyme complex participating in fatty acid beta-oxidation, is the potential site of two documented defects: long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) and MTP deficiencies. LCHAD deficiency usually manifests as hypoglycemia, with hepatopathy, hypotonia, cardiomyopathy, and retinopathy. Hypoparathyroidism has been detected in a patient with MTP deficiency. We now report on a patient with LCHAD deficiency and hypoparathyroidism, evidenced by hypocalcemia, hyperphosphatemia, and a low level of parathyroid hormone, in whom the parathyroid glands could not be located after death.
Tyni
T
T
Department of Child Neurology, Children's Hospital, University of Helsinki, Finland.
Rapola
J
J
Palotie
A
A
Pihko
H
H
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D017809:Fatal Outcome; D006720:Homozygote; D006801:Humans; D006996:Hypocalcemia / Q000097:blood; D007011:Hypoparathyroidism / Q000201:enzymology* / Q000209:etiology; D007223:Infant; D008297:Male; D010280:Parathyroid Glands / Q000002:abnormalities; D010281:Parathyroid Hormone / Q000097:blood; D017354:Point Mutation
D010281:Parathyroid Hormone; D015094:3-Hydroxyacyl CoA Dehydrogenases