Methylmalonic acidemias, also called methylmalonic acidurias, are a group of inherited metabolic disorders, that prevent the body from properly breaking...
49 KB (4,433 words) - 18:08, 16 June 2024
Methylmalonic acidemia with homocystinuria is a group of autosomal recessive inborn errors of cobalamin metabolism. Methylmalonic acidemia Homocystinuria...
5 KB (237 words) - 01:32, 7 April 2024
Brachycephaly (category Wikipedia articles incorporating a citation from the 1911 Encyclopaedia Britannica with Wikisource reference)
dysplasia progeroid syndrome MEGF8-related Carpenter syndrome Methylmalonic acidemia with homocystinuria, type cblX MGAT2-congenital disorder of glycosylation...
15 KB (1,463 words) - 10:18, 20 August 2024
List of diseases (M) (redirect from List of rare diseases starting with M)
deficiency Methylmalonic acidemia with homocystinuria Methylmalonic acidemia Methylmalonic aciduria microcephaly cataract Methylmalonicacidemia with homocystinuria...
28 KB (2,469 words) - 04:35, 13 June 2024
Hydroxocobalamin (category Articles with short description)
administration. However, one study on the treatment of children with methylmalonic acidemia and homocystinuria found oral hydroxocobalamine at 1 mg daily to be ineffective...
21 KB (2,021 words) - 18:44, 15 July 2024
Congenital disorders of amino acid metabolism (category Articles with short description)
keto acid dehydrogenase kinase deficiency Methylmalonic acidemia Maple syrup urine disease Homocystinuria Tyrosinemia Trimethylaminuria Hartnup disease...
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MMACHC (category Articles with short description)
and alkylcobalamins. Mutations are associated with combined homocystinuria and methylmalonic acidemia. GRCh38: Ensembl release 89: ENSG00000132763 –...
9 KB (1,111 words) - 22:27, 26 April 2024
Methionine (category Articles with short description)
diseases: Combined malonic and methylmalonic aciduria (CMAMMA) Homocystinuria Methylmalonic acidemia Propionic acidemia The industrial synthesis combines...
30 KB (3,054 words) - 06:15, 23 June 2024
List of ICD-9 codes 240–279: endocrine, nutritional and metabolic diseases, and immunity disorders (category Articles with short description)
dehydrogenase deficiency Isovaleric acidemia Maple syrup urine disease Methylmalonic acidemia Propionic acidemia 270.4 Disturbances of sulphur-bearing...
16 KB (1,399 words) - 17:41, 9 February 2024
List of genetic disorders (category Articles with short description)
(2011). "Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype". Journal...
42 KB (983 words) - 10:34, 21 August 2024
Vitamin B12 (redirect from B12 with dermatosis)
people with folate deficiency. In addition, elevated methylmalonic acid levels may also be related to metabolic disorders such as methylmalonic acidemia. If...
112 KB (12,247 words) - 15:40, 25 August 2024
List of disorders included in newborn screening programs (category Articles with short description)
disease (MSUD) < 1 in 100,000 Homocystinuria (HCY) < 1 in 100,000 Inborn errors of organic acid metabolism Glutaric acidemia type I (GA I) > 1 in 75,000...
7 KB (716 words) - 06:19, 9 June 2024
List of OMIM disorder codes (category Articles with short description)
cblG type; 250940; MTR Methylmalonic aciduria and homocystinuria, cblC type; 277400; MMACHC Methylmalonic aciduria and homocystinuria, cblD type; 277410;...
234 KB (18,877 words) - 15:43, 9 May 2024