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Fatal Infantile Lactic Acidosis with Methylmalonic Aciduria
Mitochondrial DNA Depletion Syndrome Type 9

Presentation

ORPHA:17 Classification level: Disorder Synonym(s): - Prevalence: Unknown Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: E71.1 OMIM: 245400 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy. Pediatr Neurol 1995; 13:333–335. CrossRef CAS PubMed Google Scholar Wolf B. Disorders of biotin metabolism: treatable neurologic syndromes. [link.springer.com]

Entire Body System

  • Feeding Difficulties

    Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated. [orpha.net]

  • Asymptomatic

    Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with “Lorenzo’s oil”. J Neurol Neurosurg Psychiatry 1999; 67:290–299. [link.springer.com]

Gastrointestinal

  • Failure to Thrive

    Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated. [orpha.net]

Treatment

Diagnosis and Treatment. Berlin: Springer Verlag; 1995:147–160. Google Scholar Batshaw ML, Brusilow, Waber L et al. Treatment in inborn errors of urea synthesis. New Engl J Med 1982; 306:1387. [link.springer.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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