8-Month-Old Boy with Ataxia after Ingestion of Cow's Milk
| Autor: | Catherine Karimov, Alvaro H Serrano Russi, Linda M. Randolph, Xiaowei Fu |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine medicine.medical_specialty Ataxia Clinical Biochemistry Anion gap 030105 genetics & heredity 03 medical and health sciences 0302 clinical medicine Maple Syrup Urine Disease Valine Internal medicine Animals Humans Ingestion Medicine Amino Acids business.industry Maple syrup urine disease Biochemistry (medical) Infant medicine.disease Glucose Milk Endocrinology Ketonuria Leucine Isoleucine medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Clinical Chemistry. 64:611-613 |
| ISSN: | 1530-8561 0009-9147 |
| DOI: | 10.1373/clinchem.2017.277954 |
| Popis: | A previously healthy 8-month-old male was referred to the emergency department following 3 days of ataxia, weakness, and sleepiness after ingestion of cow's milk. He presented with mild metabolic acidosis without anion gap and mild ketonuria. Plasma total CO2 concentration was 20 mmol/L (reference interval, 20–30 mmol/L); plasma ammonia, 25 μmol/L (reference interval, 10–50 μmol/L); and plasma glucose, 87 mg/dL (reference interval, 60–115 mg/dL). Family history was unremarkable; both maternal and paternal ethnicity was El Salvadorian without consanguinity. Birth history was also unremarkable with normal developmental milestones. Newborn screening (NBS) collected at 36 h after birth was negative. During his evaluation, plasma amino acids measured by high performance liquid chromatography showed valine, >1000 μmol/L (reference interval, 64–294 μmol/L); leucine, 1153 μmol/L (reference interval, 47–155 μmol/L); isoleucine, 557 μmol/L (reference interval, 31–86 μmol/L); and allo-isoleucine, 146 μmol/L (normal, not detected). The patient has maple syrup urine disease (MSUD).3 MSUD is a disorder of branched-chain amino acid catabolism, caused by a deficiency in the branched-chain α-keto acid dehydrogenase complex, which is responsible for the decarboxylation of the branched-chain amino acids … |
| Databáze: | OpenAIRE |
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