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Summary

Disease	DIABETES MELLITUS, INSULIN-DEPENDENT
Synonym	INSULIN-DEPENDENT DIABETES MELLITUS (IDDM) DIABETES MELLITUS, INSULIN DEPENDENT TYPE
OMIM	222100 OMIM = Online Medalian Inheritance of Men
Gene locus	6p21.3 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Insulin-dependent diabetes mellitus-1
Treatment	diet exercise insulin sodium bicarbonate volume replacement
Summary	rare (1:600) polygenic autosomal recessive susceptibility heterogenous

symptoms

acetone-like odor

coma

dehydration

glucosuria

ketosis, ketoacidosis

metabolic acidosis

onset, childhood

onset, infancy

polydipsia (increased drinking)

polyuria

unusual odor / odour

weight loss

laboratory finding

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
D-Glucose	5.50	10.00	3.30	5.50	mmol/l	serum
Sodium	150.00	180.00	135.00	145.00	mmol/l	serum
Ketone bodies					++/+++	urine
Insulin			3.00	23.00	low	plasma
pH	6.90	7.35	7.35	7.45	no unit	blood
Bicarbonate	15.00	24.00	24.00	27.00	mmol/l	blood
pCO2	20.00	30.00	38.00	42.00	mm Hg	blood
C-peptide					decreased	serum/plasma
reducing substances, urine (Clinitest)	0.00	0.00			+	urine	no data
D-Glucose	0.00	0.00			increased	urine	no data
D-Galactonic acid	0.00	0.00			increased	urine	no data

Literature

Author	Co-Author	Title	society	book	volume	number	pages	Year
Etzioni A	et al.	Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation	Am J Med Genet		110	2	131-135	2002
Sturla L	et al.	Differential terminal fucosylation of N-linked glycans versus protein O-fucosylation in leukocyte adhesion deficiency type II (CDG IIc)	J Biol Chem		278	29	26727-33	2003
Ward C	et al.	A mild form of mucolipidosis type III in four Baluch siblings	Clin Genet		44	6	313-319	1993
Koch R	et al.	The international collaborative study of maternal phenylketonuria: status report 1994	Acta Paediatr Scan		407	0	111-119	1994
Morava E	et al.	A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia	Eur J Hum Genet		15	6	638-645	2007
Wu X	et al.	Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder	Nat Med		10	5	518-523	2004
Lenke RR	Levy HL	Maternal phenylketonuria and hyperphenylalaninemia: an international survey of the outcome of untreated and treated pregnancies	N Engl J Med		303	0	1202-1208	1980
Ishikawa HO	et al.	Notch deficiency implicated in the pathogenesis of congenital disorder of glycosylation IIc	Proc Natl Acad Sci U S A		102	51	18532-7	2005
Slocum RH	Cummings, J.G.	Amino Acid Analysis of Physiological Samples	Techniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York		0	0	87-125	1991