Mitochondrial myopathy with lactic acidosis

Preferred Label : Mitochondrial myopathy with lactic acidosis;

Symbol : MMLA;

CISMeF acronym : MMLA;

Type : Phenotype, molecular basis known;

Description : Hackett et al. (1973) described 2 sisters with signs of growth failure, severe muscle weakness, and moderate neural deafness. Light microscopy of skeletal muscle showed areas of 'granular necrosis,' which, by electron microscopy, were found to be produced by large and numerous mitochondria. Hyperalaninemia and hyperalaninuria were demonstrated and an oral alanine load was more slowly cleared than normal. They also had elevated pyruvate concentration in the blood and severe lactic acidosis, which in 1 girl was fatal at age 11 years. The girls were asymptomatic until ages 6 and 8 years. One sister was alive at age 20. No statement about parental consanguinity was made. See 238800, 251900, and 262900 for other 'mitochondrial myopathies.' *FIELD* SA Mastaglia et al. (1980) *FIELD* RF 1. Hackett, T. N., Jr.; Bray, P. F.; Ziter, F. A.; Nyhan, W. L.; Creer, K. M.: A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness. J. Pediat. 83: 426-431, 1973. 2. Mastaglia, F. L.; Thompson, P. L.; Papadimitriou, J. M.: Mitochondrial myopathy with cardiomyopathy, lactic acidosis and response to prednisone and thiamine. Aust. New Zeal. J. Med. 10: 660-664, 1980. *FIELD* CS Growth: Growth failure Metabolic: Lactic acidosis GI: Episodic vomiting Muscle: Severe muscle weakness;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the patatin-like phospholipase domain-containing protein 8 gene (PNPLA8, 612123.0001) CREATION DATE : John F. Jackson : 6/15/1995;

Laboratory abnormalities : Increased serum pyruvate; Increased serum lactate;

Prefixed ID : #251950;

Details

Origin ID

251950;

UMLS CUI

C1855033;

Currated CISMeF NLP mapping
- Mitochondrial myopathy with lactic acidosis [MeSH concept]
- Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder) [SNOMED CT concept]
- Mitochondrial myopathy-lactic acidosis-deafness syndrome [ORDO Disease]
- mitochondrial myopathy with lactic acidosis [MeSH Supplementary Concept]
Genes related to phenotype
- Patatin-like phospholipase domain-containing protein 8 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Dystonia [HPO term]
- Episodic vomiting [HPO term]
- Fatigue [HPO term]
- Focal impaired awareness seizure [HPO term]
- Generalized hypotonia [HPO term]
- Gowers sign [HPO term]
- Growth delay [HPO term]
- Growth failure [HPO term]
- Hemiparesis [HPO term]
- Hyperalaninemia [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Increased serum pyruvate [HPO term]
- Infantile onset [HPO term]
- Lactic acidosis [HPO term]
- Mitochondrial myopathy [HPO term]
- Moderate sensorineural hearing impairment [HPO term]
- Muscle weakness [HPO term]
- Muscle weakness, severe [HPO term]
- Postnatal growth retardation [HPO term]
- Progressive [HPO term]
- Proximal muscle weakness [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Tip-toe gait [HPO term]
- Toe walking [HPO term]
ORDO concept(s)
- Mitochondrial myopathy-lactic acidosis-deafness syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial myopathy with lactic acidosis [MeSH concept]
- Mitochondrial myopathy-lactic acidosis-deafness syndrome [ORDO Disease]
- mitochondrial myopathy with lactic acidosis [MeSH Supplementary Concept]

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