holocarboxylase synthetase deficiency/povraćanje

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Holocarboxylase synthetase deficiency presenting as ichthyosis.

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Holocarboxylase synthetase deficiency is a rare autosomal recessive disorder of biotin metabolism. Clinical manifestations usually present within the first few days of life and include severe acidosis, feeding difficulties, breathing abnormalities, vomiting, seizures, progressive loss of

Holocarboxylase synthetase deficiency pre and post newborn screening.

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Holocarboxylase synthetase deficiency is an autosomal recessive disorder of biotin metabolism resulting in multiple carboxylase deficiency. The typical presentation described in the medical literature is of neonatal onset within hours to weeks of birth with emesis, hypotonia, lethargy, seizures,

Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy.

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The clinical and biochemical findings in a family with late-onset holocarboxylase synthetase (HCS) deficiency are described. The index patient had two life-threatening episodes of metabolic decompensation at the age of 13 and 18 months with ketotic hypoglycaemia, vomiting and progressive loss of

Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.

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Holocarboxylase synthetase (HCS) is responsible for the biotinylation of pyruvate carboxylase, propionyl coenzyme A (CoA) carboxylase, beta-methylcrotonoyl CoA carboxylase, and acetyl CoA carboxylase. We report on a patient with HCS deficiency resulting in a rare metabolic disease. The patient, a

Holocarboxylase synthetase deficiency: report of one case.

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Holocarboxylase synthetase (HCS) is an enzyme that catalyzes biotin incorporation into carboxylases, and its deficiency causes biotin-responsive multiple carboxylase deficiency. We report a patient who had his first episode at 32 months of age. The main clinical findings were a characteristic rash,

[Gene mutation analysis in four Chinese patients with multiple carboxylase deficiency].

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OBJECTIVE Multiple carboxylase deficiency (MCD) is an autosomal recessive disorder. MCD is characterized by skin rash, metabolic acidosis, vomiting and psychomotor retardation. Depending on deficiency of the enzyme, MCD includes two different forms, biotinidase deficiency (BTD, OMIM 253260) and

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