Molybdenum Cofactor Deficiency: Another Inborn Error of Metabolism With Neonatal Onset

PEDIATRICS ◽  
1988 ◽  
Vol 82 (3) ◽  
pp. 521-521
Author(s):  
MASAFUMI MATSUO ◽  
EISAKU MAEDA ◽  
HAJIME NAKAMURA ◽  
KAYOKO SAIKI
Keyword(s):  
Inborn Error ◽  
Inborn Errors Of Metabolism ◽  
Early Recognition ◽  
Case Reports ◽  
Molybdenum Cofactor ◽  
Inborn Errors ◽  
Molybdenum Cofactor Deficiency ◽  
Neonatal Onset ◽  
Proper Diagnosis ◽  
Cofactor Deficiency

To the Editor.— We agree with Dr Burton1 that the practicing physician has the responsibility for the initial recognition of inborn errors of metabolism. Because we have experienced many cases of inborn errors of metabolism in neonates who might have died soon after birth without a proper diagnosis, we advocate that every neonatologist has the responsibility of recognizing these disorders. To promote the early recognition, we must know the initial signs or symptoms of neonatal cases of inborn errors of metabolism and we have collected neonatal case reports in the literatures during the last 5 years.

Molybdenum Cofactor Deficiency: Another Inborn Error of Metabolism With Neonatal Onset

PEDIATRICS ◽  
1988 ◽  
Vol 82 (3) ◽  
pp. 521-521
Author(s):  
BARBARA K. BURTON
Keyword(s):  
Inborn Error ◽  
Molybdenum Cofactor ◽  
Inborn Error Of Metabolism ◽  
Inborn Errors ◽  
Oxidase Deficiency ◽  
Ectopia Lentis ◽  
Molybdenum Cofactor Deficiency ◽  
Sulfite Oxidase Deficiency ◽  
Eye Examination ◽  
Cofactor Deficiency

In Reply.— Matsuo and co-workers correctly point out that molybdenum cofactor deficiency may present in the neonatal period and, therefore, add yet another disorder to the list of inborn errors of metabolism affecting the neonate. Hypouricemia may be a clue, as noted, and ectopia lentis, as seen in isolated sulfite oxidase deficiency, is an additional important finding. The importance of a careful eye examination in infants suspected of having an inborn error of metabolism is again emphasized.

scholarly journals Sulfite Alters the Mitochondrial Network in Molybdenum Cofactor Deficiency

2021 ◽  
Vol 11 ◽  
Author(s):  
Anna-Theresa Mellis ◽  
Juliane Roeper ◽  
Albert L. Misko ◽  
Joshua Kohl ◽  
Guenter Schwarz
Keyword(s):  
Mitochondrial Dynamics ◽  
Large Family ◽  
Molybdenum Cofactor ◽  
Intermembrane Space ◽  
Mitochondrial Network ◽  
Loss Of Function ◽  
Inborn Errors ◽  
Molybdenum Cofactor Deficiency ◽  
Atp Production ◽  
Cofactor Deficiency

Molybdenum cofactor deficiency (MoCD) is an autosomal recessive disorder belonging to the large family of inborn errors in metabolism. Patients typically present with encephalopathy and seizures early after birth and develop severe neurodegeneration within the first few weeks of life. The main pathomechanism underlying MoCD is the loss of function of sulfite oxidase (SO), a molybdenum cofactor (Moco) dependent enzyme located in mitochondrial intermembrane space. SO catalyzes the oxidation of sulfite (SO32–) to sulfate (SO42–) in the terminal reaction of cysteine catabolism, and in the absence of its activity, sulfurous compounds such as SO32–, S-sulfocysteine, and thiosulfate accumulate in patients. Despite growing evidence that these compounds affect neuronal and mitochondrial function, the molecular basis of neuronal dysfunction and cell death in MoCD is still poorly understood. Here we show that mitochondria are severely affected by the loss of SO activity. SO-deficient mouse embryonic fibroblasts display reduced growth rates and impaired ATP production when cultured in galactose, which is an indicator of mitochondrial dysfunction. We also found that mitochondria in SO-deficient cells form a highly interconnected network compared to controls while displaying a slight decrease in motility and unchanged mitochondrial mass. Moreover, we show that the mitochondrial network is directly influenced by SO32–, as a moderate elevation of SO32– lead to the formation of an interconnected mitochondrial network, while high SO32– levels induced fragmentation. Finally, we found a highly interconnected mitochondrial network in MoCD patient-derived fibroblasts, similar to our findings in mouse-derived fibroblasts. We therefore conclude that altered mitochondrial dynamics are an important contributor to the disease phenotype and suggest that MoCD should be included among the mitochondrial disorders.

Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome

2013 ◽  
Vol 28 (3) ◽  
pp. 399-401 ◽  
Author(s):  
Fadi Alkufri ◽  
Tim Harrower ◽  
Yusof Rahman ◽  
Elaine Hughes ◽  
Helen Mundy ◽  
...  
Keyword(s):  
Molybdenum Cofactor ◽  
Molybdenum Cofactor Deficiency ◽  
Cofactor Deficiency

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A

1998 ◽  
Vol 103 (6) ◽  
pp. 639-644 ◽  
Author(s):  
J. Reiss ◽  
Ernst Christensen ◽  
Gerhard Kurlemann ◽  
Marie-Therese Zabot ◽  
Claude Dorche
Keyword(s):  
Genomic Structure ◽  
Type A ◽  
Molybdenum Cofactor ◽  
Molybdenum Cofactor Deficiency ◽  
Mutational Spectrum ◽  
Deficiency Type ◽  
Cofactor Deficiency

Inborn Errors of Metabolism

1980 ◽  
Vol 2 (6) ◽  
pp. 175-181
Author(s):  
George M. Komrower
Keyword(s):  
Neurospora Crassa ◽  
Inborn Error ◽  
Inborn Errors Of Metabolism ◽  
Metabolic Disorders ◽  
Homogentisic Acid ◽  
Turn Of The Century ◽  
Inborn Errors ◽  
The Family ◽  
The One ◽  
Biochemical Abnormalities

Around the turn of the century Garrard established the concept of an inborn error of metabolism using his study on alcaptonuria to exemplify his hypothesis that a considerable number of metabolic disorders with clearly defined clinical, pathologic, and biochemical abnormalities arise because an enzyme governing a single metabolic step is either reduced in activity or missing altogether. He pointed out the familial distribution of alcaptonuria and later showed that the inheritance could be explained on mendelian principles, ie, the affected individual was homozygous for the abnormal gene and that the inheritance was recessive, both parents being heterozygous for the disorder. He suggested that the accumulation of homogentisic acid in alcaptonuria was evidence that this substance is a normal metabolite in the degradation of tyrosine and attributed this accumulation to a failure of oxidation of homogentisic acid. In addition to alcaptonuria he described cystinunia, pentosuria, and albinism. This work was the forerunner of the classic studies of Beadle and Tatum on mutants of Neurospora crassa which led to the one gene-one enzyme concept. DETECTION Different groups require special attention: the family at risk because of previously affected individuals, those with unusual features suggestive of metabolic disorders, and sick newborns. Screening of normal newborns requires a different approach.

scholarly journals An Introduction to Pharmacotherapy for Inborn Errors of Metabolism

2018 ◽  
Vol 23 (6) ◽  
pp. 432-446
Author(s):  
Aaron A. Harthan
Keyword(s):  
Adverse Effects ◽  
Inborn Errors Of Metabolism ◽  
Single Case ◽  
Case Reports ◽  
Review Article ◽  
Metabolic Process ◽  
Inborn Errors ◽  
Herbal Products ◽  
Disease States ◽  
Treatment Plans

Inborn errors of metabolism comprise a wide array of diseases and complications in the pediatric patient. The rarity of these disorders limits the ability to conduct and review robust literature regarding the disease states, mechanisms of dysfunction, treatments, and outcomes. Often, treatment plans will be based on the pathophysiology associated with the disorder and theoretical agents that may be involved in the metabolic process. Medication therapies usually consist of natural or herbal products. Established efficacious pediatric doses for these products are difficult to find in tertiary resources, and adverse effects are routinely limited to single case reports. This review article attempts to summarize some of the more common inborn errors of metabolism in a manner that is applicable to pharmacists who will provide care for these patients.

Diagnosis of molybdenum cofactor deficiency

The Lancet ◽  
1999 ◽  
Vol 353 (9153) ◽  
pp. 675-676 ◽  
Author(s):  
William Stephen Waring ◽  
Simon Maxwell
Keyword(s):  
Molybdenum Cofactor ◽  
Molybdenum Cofactor Deficiency ◽  
Cofactor Deficiency
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